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1. Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

Author: Vyzhga, Y., Wittkowski, H., Hentgen, V., Georgin-Lavialle, S., Theodoropoulou, A., Fuehner, S., Jesenak, M., Frenkel, J., Papadopoulou-Alataki, E., Anton, Jordi, Olivieri, A. Nunzia, Brunner, J., Sanchez, J., Koné-Paut, I., Fingerhutova, S., Pillet, P., Meinzer, U., Khubchandani, R., Jansson, A., Haas, J.-P., Berendes, R., Kallinich, T., Horneff, G., Lilienthal, E., Papa, R., Foell, D., Lainka, E., Caorsi, R., Gattorno, M., and Hofer, M.
Published: 2024
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2. Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

Author: Arts-assistenten Kinderen, Child Health, Vyzhga, Y., Wittkowski, H., Hentgen, V., Georgin-Lavialle, S., Theodoropoulou, A., Fuehner, S., Jesenak, M., Frenkel, J., Papadopoulou-Alataki, E., Anton, Jordi, Olivieri, A. Nunzia, Brunner, J., Sanchez, J., Koné-Paut, I., Fingerhutova, S., Pillet, P., Meinzer, U., Khubchandani, R., Jansson, A., Haas, J. P., Berendes, R., Kallinich, T., Horneff, G., Lilienthal, E., Papa, R., Foell, D., Lainka, E., Caorsi, R., Gattorno, M., Hofer, M., Arts-assistenten Kinderen, Child Health, Vyzhga, Y., Wittkowski, H., Hentgen, V., Georgin-Lavialle, S., Theodoropoulou, A., Fuehner, S., Jesenak, M., Frenkel, J., Papadopoulou-Alataki, E., Anton, Jordi, Olivieri, A. Nunzia, Brunner, J., Sanchez, J., Koné-Paut, I., Fingerhutova, S., Pillet, P., Meinzer, U., Khubchandani, R., Jansson, A., Haas, J. P., Berendes, R., Kallinich, T., Horneff, G., Lilienthal, E., Papa, R., Foell, D., Lainka, E., Caorsi, R., Gattorno, M., and Hofer, M.
Published: 2024

3. Corrigendum to The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: Results from a large international FMF cohort (Seminars in Arthritis and Rheumatism (2022) 52, (S0049017222000087), (10.1016/j.semarthrit.2022.151957)): <[ Seminars in Arthritis and Rheumatism Volume 52, 151957]>

Author: Bustaffa, M., Kone-Paut, I., Ozen, S., Amaryan, G., Papadopoulou-Alataki, E., Gallizzi, R., Carrabba, M., Aviel, Y. B., Cantarini, L., Alessio, M., Anton, J., Obici, L., Gok, F., Batu, E. D., Moreno, E., Brogan, P., Trachana, M., Simonini, G., Rigante, Donato, Uziel, Y., Insalaco, A., Maggio, M. C., Ruperto, N., Gattorno, M., Semerano, L. R., Rigante D. (ORCID:0000-0001-7032-7779), Bustaffa, M., Kone-Paut, I., Ozen, S., Amaryan, G., Papadopoulou-Alataki, E., Gallizzi, R., Carrabba, M., Aviel, Y. B., Cantarini, L., Alessio, M., Anton, J., Obici, L., Gok, F., Batu, E. D., Moreno, E., Brogan, P., Trachana, M., Simonini, G., Rigante, Donato, Uziel, Y., Insalaco, A., Maggio, M. C., Ruperto, N., Gattorno, M., Semerano, L. R., and Rigante D. (ORCID:0000-0001-7032-7779)
Abstract: The authors regret < for the oversight to mention that this work has been done on behalf of the Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) >. The authors would like to apologise for any inconvenience caused. ____________________________ DOI of original article: < 10.1016/j.semarthrit.2022.151957>
Published: 2023

4. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting

Author: Aberer, W., Grumach, A., Bygum, A., Blanchard Delaunay, C., Bouillet, L., Coppere, B., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Arnolds, J., Aygören-Pürsün, E., Baş, M., Bauer, A., Bork, K., Martinez, I., Maurer, M., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Cicardi, M., Manconi, P., Marone, G., Montinaro, V., Baeza, M.L., Caballero, T., Cabañas, R., Guilarte, M., Hernandez de Rojas, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Sáenz de San Pedro, B., Bjorkander, J., Helbert, M., Longhurst, H.J., Zanichelli, Andrea, Longhurst, Hilary J., Maurer, Marcus, Bouillet, Laurence, Aberer, Werner, Fabien, Vincent, Andresen, Irmgard, and Caballero, Teresa
Published: 2016
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5. The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

Author: Bustaffa, M, Koné-Paut, I, Ozen, S, Amaryan, G, Papadopoulou-Alataki, E, Gallizzi, R, Carrabba, M, Aviel, Yb, Cantarini, L, Alessio, M, Anton, J, Obici, L, Gok, F, Batu, Ed, Moreno, E, Brogan, P, Trachana, M, Simonini, G, Rigante, Donato, Uziel, Y, Insalaco, A, Maggio, Mc, Ruperto, N, Gattorno, M, Rossi-Semerano, L, Rigante D (ORCID:0000-0001-7032-7779), Bustaffa, M, Koné-Paut, I, Ozen, S, Amaryan, G, Papadopoulou-Alataki, E, Gallizzi, R, Carrabba, M, Aviel, Yb, Cantarini, L, Alessio, M, Anton, J, Obici, L, Gok, F, Batu, Ed, Moreno, E, Brogan, P, Trachana, M, Simonini, G, Rigante, Donato, Uziel, Y, Insalaco, A, Maggio, Mc, Ruperto, N, Gattorno, M, Rossi-Semerano, L, and Rigante D (ORCID:0000-0001-7032-7779)
Abstract: Introduction. A classification of genetic variants’ pathogenicity associated to hereditary recurrent fevers and the novel Eurofever/PRINTO classification criteria (EPCC) have been recently developed. Objectives: to evaluate the clinical impact of EPCC criteria and new INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. Methods: baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were analysed. Genetic and clinical EPCC criteria for FMF were applied. MEFV variants were classified according to the new INSAID classification. Results: Since November 2009, clinical information was available for 1012 FMF (532 males/480 females, 827 children/185 adults) from 119 centres. For 125 patients clinical and genetic data mandatory for the application of EPCC were missing. Among the 887 remaining patients 623 (70.2%) satisfied EPCC (EPPC+), while 264 (29.8%) did not (EPPC-). Most of the EPCC- patients (172, 65.1%) displayed negative or non-informative genetics (monoallelic or biallelic benign variants, monoallelic variant of unknown significance. At baseline, Colchicine was used in most of EPCC+ patients (88%) and in a minor percentage of EPCC- patients (69 %, p < 0.0001), who were treated in a higher proportion with steroid or NSAID on demand (p = 0.003 and 0.008, respectively). Anti-IL-1 treatment was used in 4% of patients. Conclusions: The combination of EPCC and the new classification of genetic variants’ pathogenicity captured the majority of FMF patients in the Eurofever cohort in a homogeneous group. EPPC- patients were characterized by a different phenotype and therapeutic approach.
Published: 2022

6. Apelin and G212A apelin receptor gene polymorphism in obese and diabese youth

Author: Kotanidou, E. P., Kalinderi, K., Kyrgios, I., Efraimidou, S., Fidani, L., Papadopoulou-Alataki, E., Eboriadou-Petikopoulou, M., and Galli-Tsinopoulou, A.
Published: 2015
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7. Long-term safety of icatibant treatment of patients with angioedema in real-world clinical practice

Author: Zanichelli, A., Maurer, M., Aberer, W., Caballero, T., Longhurst, H. J., Bouillet, L., Fabien, V., Andresen, I., Grumach, A., Bygum, A., Blanchard Delaunay, C., Boccon-Gibod, I., Coppere, B., Du Thanh, A., Dzviga, C., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Aygören-Pürsün, E., Bas, M., Bauer, A., Bork, K., Greve, J., Magerl, M., Martinez Saguer, I., Strassen, U., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Marone, G., Montinaro, V., Triggiani, M., Baeza, L., Cabañas, R., Gala Ortiz, G., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Björkander, J., Bethune, C., Garcez, T., Zanichelli, A., Maurer, M., Aberer, W., Caballero, T., Longhurst, H. J., Bouillet, L., Fabien, V., Andresen, I., Grumach, A., Bygum, A., Blanchard Delaunay, C., Boccon-Gibod, I., Coppere, B., Du Thanh, A., Dzviga, C., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Aygören-Pürsün, E., Bas, M., Bauer, A., Bork, K., Greve, J., Magerl, M., Martinez Saguer, I., Strassen, U., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Marone, G., Montinaro, V., Triggiani, M., Baeza, L., Cabañas, R., Gala Ortiz, G., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Björkander, J., Bethune, C., and Garcez, T.
Subjects: safety, 0301 basic medicine, real-world, medicine.medical_specialty, Immunology, Brief Communication, Off-label use, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Icatibant, Internal medicine, angioedema, icatibant, Immunology and Allergy, Medicine, Reflux esophagitis, Adverse effect, Pregnancy, Angioedema, business.industry, real‐world, medicine.disease, 030104 developmental biology, 030228 respiratory system, chemistry, Anesthesia, Observational study, Long term safety, medicine.symptom, business
Abstract: The Icatibant Outcome Survey (IOS) is an observational study monitoring safety and effectiveness of icatibant in the real‐world setting. We analyzed safety data from 3025 icatibant‐treated attacks in 557 patients (enrolled between July 2009 and February 2015). Icatibant was generally well tolerated. Excluding off‐label use and pregnancy, 438 patients (78.6%) did not report adverse events (AEs). The remaining 119 (21.4%) patients reported 341 AEs, primarily gastrointestinal disorders (19.6%). Of these, 43 AEs in 17 patients (3.1%) were related to icatibant. Serious AEs (SAEs) occurred infrequently. A total of 143 SAEs occurred in 59 (10.6%) patients; only three events (drug inefficacy, gastritis, and reflux esophagitis) in two patients were considered related to icatibant. Notably, no SAEs related to icatibant occurred in patients with cardiovascular disease, nor in those using icatibant at a frequency above label guidelines. Additionally, no major differences were noted in AEs occurring in on‐label vs off‐label icatibant users.
Published: 2017
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8. The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Author: Schatorjé, E. J. H., Gathmann, B., van Hout, R. W. N. M., de Vries, E., Alsina, L, Baumann, U, Belohradsky, B H, Bienemann, K, Boardman, B, Borte, M, Bredius, R G, Brodszki, N, Caracseghi, F, Ciznar, P, de Vries, E, Driessen, G J, Dückers, G, Duppenthaler, A, Farmaki, E, Galal, N, Gennery, A, Gonzalez-Granado, L I, Hlavackova, E, Hoernes, M, Kilic, S S, Krüger, R, Kuijpers, T W, Kütükcüler, N, Llobet, P, Marques, L, van Montfrans, J M, Papadopoulou-Alataki, E, Paschenko, O, Pasic, S, Pietrogrande, M C, Pignata, C, Reda, S M, Reisli, I, Roesler, J, Santos, J L, Schölvinck, E H, Schulze, Ilka, Seidel, M G, Shcherbina, A, Sundin, M, Szaflarska, A, Velbri, S, Warnatz, K, and Warris, A
Published: 2014
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9. Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database: 43

Author: Gathmann, B., Mahlaoui, N., Warnatz, K., Kuijpers, T. W., Kilic, S. S., Thon, V., Arkwright, P. D., Kumararatne, D., Exley, A., Borte, M., Jones, A., Belohradsky, B. H., Baumann, U., Kütükcüler, N., Witte, T., Feighery, C., Wagström, P., Longhurst, H., Linde, R., Ritterbusch, H., Farmaki, E., Sediva, A., Papadopoulou-Alataki, E., Panahloo, Z., and Grimbacher, B.
Published: 2011

10. The longitudinal Eurofever project: an update on enrollment

Author: Gueli, I, Finetti, M, De Benedetti, F, Lopez, Ja, Alessio, M, Frenkel, J, Cantarini, L, Gallizzi, R, Sanchez Manubens, J, Cattalini, M, Papadopoulou-Alataki, E, Cimaz, R, Rigante, Donato, Olivieri, An, Dolezalova, P, Martini, A, Ruperto, N, and Gattorno, M
Subjects: Settore MED/16 - REUMATOLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Autoinflammation
Published: 2019

11. Efficacy, immunogenicity, and safety of a quadrivalent inactivated influenza vaccine in children aged 6-35 months: A multi-season randomised placebo-controlled trial in the Northern and Southern Hemispheres

Author: Pepin S, Dupuy M, Borja-Tabora CFC, Montellano M, Bravo L, Santos J, de Castro JA, Rivera-Medina DM, Cutland C, Ariza M, Diez-Domingo J, Gonzalez CD, Martinón-Torres F, Papadopoulou-Alataki E, Theodoriadou M, Kazek-Duret MP, Gurunathan S, De Bruijn I, and GQM05 Study Group
Subjects: Quadrivalent inactivated influenza vaccine, Efficacy, Safety, Children, Immunogenicity
Abstract: Background: A quadrivalent split-virion inactivated influenza vaccine (VaxigripTetre (TM), Sanofi Pasteur; IIV4) containing two A strains (H1N1 and H3N2) and B strains from both lineages (Victoria and Yamagata) was approved in Europe in 2016 for individuals aged >= 3 years. This study examined the efficacy and safety of IIV4 in children aged 6-35 months. Methods: This was a phase III randomised controlled trial conducted in Latin America, Asia, Africa, and Europe during the Northern Hemisphere 2014/2015 and 2015/2016 and Southern Hemisphere 2014 and 2015 influenza seasons. Healthy children aged 6-35 months not previously vaccinated against influenza were randomised to receive two full doses 28 days apart of IIV4, placebo, the licensed trivalent splitvirion inactivated vaccine (IIV3), an investigational IIV3 containing a B strain from the alternate lineage. The primary objective was to demonstrate efficacy against influenza illness caused by any strain or vaccine-similar strains. Results: The study enrolled 5806 participants. Efficacy, assessed in 4980 participants completing the study according to protocol, was demonstrated for IIV4. Vaccine efficacy was 50.98% (97% CI, 37.36-61.86%) against influenza caused by any A or B type and 68.40% (97% CI, 47.07-81.92%) against influenza caused by vaccine-like strains. Safety profiles were similar for IIV4, placebo, and the IIV3s, although injection-site reactions were slightly more frequent for IIV4 than placebo. Conclusions: IIV4 was safe and effective for protecting children aged 6-35 months against influenza illness caused by vaccine-similar or any circulating strains. (C) 2018 The Authors. Published by Elsevier Ltd.
Published: 2019

12. Elderly versus younger patients with hereditary angioedema type I/II: patient characteristics and safety analysis from the Icatibant Outcome Survey

Author: Bygum A, Caballero T, Grumach A, Longhurst H, Bouillet L, Aberer W, Zanichelli A, Botha J, Andresen I, Maurer M, Delaunay C, Boccon-Gibod I, Coppere B, Du Thanh A, Dzviga C, Fain O, Goichot B, Gompel A, Guez S, Jeandel P, Kanny G, Launay D, Maillard H, Martin L, Masseau A, Ollivier Y, Sobel A, Aygoren-Pursun E, Bas M, Bauer M, Bork K, Greve J, Magerl M, Martinez-Saguer I, Strassen U, Papadopoulou-Alataki E, Psarros F, Graff Y, Kivity S, Reshef A, Toubi E, Arcoleo F, Bova M, Cicardi M, Nconi P, Marone G, Montinaro V, Triggiani M, Baeza M, Cabanas R, Guilarte M, Hernandez D, de Larramendi C, Lleonart R, Lobera T, Marques L, Pedro B, Bjorkander J, Bethune C, Garcez T, and IOS Study Grp
Subjects: Hereditary angioedema, Elderly, Icatibant Outcome Survey, Safety
Abstract: Background: Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling in subcutaneous or submucosal tissues. Symptoms often begin by age 5-11 years and worsen during puberty, but attacks can occur at any age and recur throughout life. Disease course in elderly patients is rarely reported. Methods: The Icatibant Outcome Survey (IOS) is an observational study evaluating the safety, tolerability, and efficacy of icatibant. We conducted descriptive analyses in younger (age < 65 years) versus elderly patients (age >= 65 years). Here, we report patient characteristics and safety-related findings. Results: As of February 2018, 872 patients with C1-INH-HAE type I/II were enrolled, of whom 100 (11.5%) were >= 65 years old. Significant differences between elderly versus younger patients, respectively, were noted for median age at symptom onset (17.0 vs 12.0 years), age at diagnosis (41.0 vs 19.4 years), and delay between symptom onset and diagnosis (23.9 vs 4.8 years) (P
Published: 2019

13. Breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis are responsive to icatibant:findings from the Icatibant Outcome Survey

Author: Aberer, Werner, Maurer, Marcus, Bouillet, Laurence, Zanichelli, Andrea, Caballero, Teresa, Longhurst, Hilary J., Perrin, Amandine, Andresen, Irmgard, Wiednig, M., Grumach, A., Bygum, A., Blanchard Delauny, C., Boccon-Gibod, I., Coppere, B., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P. Y., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Arnolds, J., Aygören-Pürsün, E., Bas, M., Bauer, M., Bork, K., Magerl, M., Martinez-Saguer, I., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Montinaro, V., Marone, G., Baeza, M. L., Cabañas, R., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Bjoerkander, J., Bethune, C., Garcez Pereira, T., Helbert, M., Aberer, Werner, Maurer, Marcu, Bouillet, Laurence, Zanichelli, Andrea, Caballero, Teresa, Longhurst, Hilary J., Perrin, Amandine, Andresen, Irmgard, Wiednig, M., Grumach, A., Bygum, A., Blanchard Delauny, C., Boccon-Gibod, I., Coppere, B., Fain, O., Goichot, B., Gompel, A., Guez, S., Jeandel, P. Y., Kanny, G., Launay, D., Maillard, H., Martin, L., Masseau, A., Ollivier, Y., Sobel, A., Arnolds, J., Aygören-Pürsün, E., Bas, M., Bauer, M., Bork, K., Magerl, M., Martinez-Saguer, I., Papadopoulou-Alataki, E., Psarros, F., Graif, Y., Kivity, S., Reshef, A., Toubi, E., Arcoleo, F., Bova, M., Cicardi, M., Manconi, P., Montinaro, V., Marone, G., Baeza, M. L., Cabañas, R., Guilarte, M., Hernandez, D., Hernando de Larramendi, C., Lleonart, R., Lobera, T., Marques, L., Saenz de San Pedro, B., Bjoerkander, J., Bethune, C., Garcez Pereira, T., and Helbert, M.
Subjects: lcsh:Immunologic diseases. Allergy, Pulmonary and Respiratory Medicine, Breakthrough attack, Immunology, Attack rate, Time to treatment, Long term prophylaxis, Bradykinin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Icatibant, Immunology and Allergy, Medicine, In patient, 030212 general & internal medicine, Prophylaxi, Breakthrough attacks, Hereditary angioedema, business.industry, Prophylaxis, Research, musculoskeletal, neural, and ocular physiology, General Medicine, medicine.disease, Rescue medication, Treatment characteristics, 030228 respiratory system, chemistry, nervous system, Anesthesia, lcsh:RC581-607, business
Abstract: BACKGROUND: Patients with hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) experience recurrent attacks of cutaneous or submucosal edema that may be frequent and severe; prophylactic treatments can be prescribed to prevent attacks. However, despite the use of long-term prophylaxis (LTP), breakthrough attacks are known to occur. We used data from the Icatibant Outcome Survey (IOS) to evaluate the characteristics of breakthrough attacks and the effectiveness of icatibant as a treatment option.METHODS: Data on LTP use, attacks, and treatments were recorded. Attack characteristics, treatment characteristics, and outcomes (time to treatment, time to resolution, and duration of attack) were compared for attacks that occurred with versus without LTP.RESULTS: Data on 3228 icatibant-treated attacks from 448 patients with C1-INH-HAE were analyzed; 30.1% of attacks occurred while patients were using LTP. Attack rate, attack severity, and the distribution of attack sites were similar across all types of LTP used, and were comparable to the results found in patients who did not receive LTP. Attacks were successfully treated with icatibant; 82.5% of all breakthrough attacks were treated with a single icatibant injection without C1-INH rescue medication. Treatment outcomes were comparable for breakthrough attacks across all LTP types, and for attacks without LTP.CONCLUSIONS: Patients who use LTP should be aware that breakthrough attacks can occur, and such attacks can be severe. Thus, patients with C1-INH-HAE using LTP should have emergency treatment readily available. Data from IOS show that icatibant is effective for the treatment of breakthrough attacks. Trial Registration NCT01034969.
Published: 2017
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14. Analysis of Btk Mutations in Patients with X-Linked Agammaglobulinaemia (XLA) and Determination of Carrier Status in Normal Female Relatives: a Nationwide Study of Btk Deficiency in Greece

Author: Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, P., and Ritis, K.
Published: 2001

15. Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Author: Demirkaya, E., Saglam, C., Turker, T., Kone-Paut, I., Woo, P., Doglio, M., Amaryan, G., Frenkel, J., Uziel, Y., Insalaco, A., Cantarini, L., Hofer, M., Boiu, S., Duzova, A., Modesto, C., Bryant, A., Rigante, D., Papadopoulou-Alataki, E., Guillaume-Czitrom, S., Kuemmerle-Deschner, J., Neven, B., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M., Ozen, S., and Eurofever, Project
Subjects: Male, Pediatrics, Internationality, Familial Mediterranean fever, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Tel Hashomer criteria, Diagnosis, Immunology and Allergy, Medicine, Yalcinkaya-Ozen criteria, Registries, 030212 general & internal medicine, Child, Non-U.S. Gov't, Children, education.field_of_study, Research Support, Non-U.S. Gov't, Statistics, Pharyngitis, Europe, Periodic fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Cohort, Female, medicine.symptom, Cohort study, medicine.medical_specialty, Autoinflammatory diseases, Familial mediterranean fever, Livneh criteria, Chi-Square Distribution, Diagnosis, Differential, Diagnostic Tests, Routine, Familial Mediterranean Fever, Fever, Hereditary Autoinflammatory Diseases, Humans, Retrospective Studies, Statistics, Nonparametric, Immunology, Population, Research Support, 03 medical and health sciences, Diagnostic Tests, Rheumatology, Severity of illness, Journal Article, Routine, Nonparametric, Preschool, education, 030203 arthritis & rheumatology, business.industry, Retrospective cohort study, Adenitis, medicine.disease, Differential, business
Abstract: Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.Conclusion.The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
Published: 2015
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16. In silico validation of the Autoinflammatory Disease Damage Index

Author: Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., Frenkel, J., Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., and Frenkel, J.
Abstract: Item does not contain fulltext, INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. METHODS: The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. RESULTS: The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. CONCLUSION: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.
Published: 2018

17. In silico validation of the autoinflammatory disease damage index

Author: ter Haar, Nm, van Delft, Alj, Annink, Kv, van Stel, H, Al-Mayouf, Sm, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, Pa, Cantarini, L, Cattalini, M, Cochino, Av, De Benedetti, F, Dedeoglu, F, de Jesus, Aa, Demirkaya, E, Dolezalova, P, Durrant, Kl, Fabio, G, Gallizzi, R, Goldbach-Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, Hm, Insalaco, A, Jansson, Af, Kallinich, T, Koné-Paut, I, Kozlova, A, Kuemmerle-Deschner, Jb, Lachmann, Hj, Laxer, Rm, Martini, A, Nielsen, S, Nikishina, I, Ombrello, Ak, Özen, S, Papadopoulou-Alataki, E, Quartier, P, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Ravelli, A, Schulert, G, Gattorno, M, Frenkel, J, Rigante D (ORCID:0000-0001-7032-7779), ter Haar, Nm, van Delft, Alj, Annink, Kv, van Stel, H, Al-Mayouf, Sm, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, Pa, Cantarini, L, Cattalini, M, Cochino, Av, De Benedetti, F, Dedeoglu, F, de Jesus, Aa, Demirkaya, E, Dolezalova, P, Durrant, Kl, Fabio, G, Gallizzi, R, Goldbach-Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, Hm, Insalaco, A, Jansson, Af, Kallinich, T, Koné-Paut, I, Kozlova, A, Kuemmerle-Deschner, Jb, Lachmann, Hj, Laxer, Rm, Martini, A, Nielsen, S, Nikishina, I, Ombrello, Ak, Özen, S, Papadopoulou-Alataki, E, Quartier, P, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Ravelli, A, Schulert, G, Gattorno, M, Frenkel, J, and Rigante D (ORCID:0000-0001-7032-7779)
Abstract: INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. METHODS: The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. RESULTS: The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. CONCLUSION: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.
Published: 2018

18. The Eurofever project: an update on the longitudinal stage

Author: Finetti, M, Federici, S, Frenkel, J, Ozen, S, Lachmann, H, De Benedetti, F, Swart, J, Cantarini, L, Gallizzi, R, Cattalini, M, Cimaz, R, Rigante, Donato, Anton, J, Alessio, M, Olivieri, An, Dolezalova, P, Jansson, A, Fabio, G, Sanchez Manubens, J, Hachulla, E, Consolini, R, Krause, K, Ekinci, Z, Brunner, J, Koné-Paut, I, Filocamo, G, Pinedo, Mdc, Papadopoulou-Alataki, E, Bezrodnik, L, Martini, A, Ruperto, N, and Gattorno, M.
Subjects: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Hereditary periodic fever
Published: 2017

19. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies

Author: Sevdali, E. Tsitsami, E. Tsinti, M. Farmaki, E. Papadopoulou-Alataki, E. Germenis, A.E. Speletas, M.
Abstract: Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs. A cohort of 69 patients with JIA, 117 healthy children, 54 patients, and family members with PADs were enrolled in the study. Three novel SIAE variants (p.Q343P, p.Y495X, and c.1320+33T>C) were found only in patients with aJIA but interestingly also in their healthy relatives without autoimmunity, while none of PAD patients or their relatives carried SIAE defects. Our results show that SIAE rare variants are not causative of autoimmunity as single defects. © 2017 Eirini Sevdali et al.
Published: 2017

20. Monitoring of two intravenous immunoglobulin preparations for immunoglobulin G subclasses and specific antibodies to bacterial surface antigens and relation with their levels in treated immunodeficient patients

Author: Lamari, F, Karamanos, N.K, Papadopoulou-Alataki, E, Kanakoudi-Tsakalidou, F, Dimitracopoulos, G, and Anastassiou, E.D
Published: 2000
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21. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author: Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia
Subjects: Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract: Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.
Published: 2015
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22. Development of the autoinflammatory disease damage index (ADDI)

Author: Haar, N.M.R. van der, Annink, K.V., Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S.M., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Alberighi, O. Della Casa, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., Haar, N.M.R. van der, Annink, K.V., Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S.M., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Alberighi, O. Della Casa, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., and Frenkel, J.
Abstract: Item does not contain fulltext, OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.
Published: 2017

23. Development of the Autoinflammatory Disease Damage Index (ADDI)

Author: Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: This is an international consensus-baseed instrument to measure damage caused by hereditary autoinflammatory diseases.
Published: 2017

24. Development of the autoinflammatory diseases damage index (ADDI)

Author: ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.
Published: 2017

25. Valproate effect on ketosis in children under ketogenic diet

Author: Spilioti, M. Pavlou, E. Gogou, M. Katsanika, I. Papadopoulou-Alataki, E. Grafakou, O. Gkampeta, A. Dinopoulos, A. Evangeliou, A.
Abstract: Introduction Although ketogenic diet has been proven useful in the management of intractable seizures, interactions with other medicines have been reported. This study reports two patients on co-administration with ketogenic diet and valproate appearing undesirable side effects after increase or decrease of valproate pharmaceutical levels. Methods Totally 75 patients suffering from drug-resistant epilepsy were treated with ketogenic diet in our departments. Their age varied from 6 months to 9 years. All patients were followed for at least 12 months and up to five years. Clinical and laboratory variables have been regularly assessed. Results In 75 patients treated with ketogenic diet and valproate at the same time treatment was well tolerated. Two patients presented mild to moderate undesirable effects. In these patients the removal of valproate treatment resulted in an increase of ketosis with respective clinical signs. The conversion of the diet from 4:1 to 1:1 and 2,5:1 respectively resulted in reduction of ketosis and clinical improvement. Conclusion In the majority of cases co-administration of valproate and ketogenic diet seems to be safe. In two cases, valproate appeared to have a negative effect on ketosis (and weaning it led to over-ketosis). This interaction is worthy of future study. © 2016 European Paediatric Neurology Society.
Published: 2016

26. The European internet-based patient and research database for primary immunodeficiencies: update 2011

Author: Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L., Gathmann, B., Binder, N., Ehl, S., Kindle, G., Mahlaoui, N., Devergnes, N., Brosselin, P., Sanal, O., Yegin, O., Kutukculer, N., Kilic, S. S., Barlan, I. B., Reisly, I., Caracseghi, F., Santos, J. L., Llobet, P., Carbone, J., Granado, L. I. G., Sanchez Ramon, S., Tricas, L., Matamoros, N., Exley, A., Kumaratne, D., Alwood, Z., Grimbacher, B., Longhurst, H., Knerr, V., Bangs, C., Boardman, B., Tierney, P., Chapel, H., Notarangelo, L. D., Plebani, A., Pignata, Claudio, Nickel, R., Schauer, U., Spath, B., Caiser, P., Roisler, J., Bieneman, K., Line, R., Schubert, R., El Helou, S., Ritterbusch, H., Goldacker, S., Duckers, G., Fabhauer, M., Borte, M., Notheis, G., Belohradsky, B. H., Sollinger, F., Classen, C. F., Apel, K., Steinmann, S., Muglich, C., Szaflarska, A., Bernatowska, E., Heropolitansca, E., Kuijpers, T. W., van Beem, R., Galal, N. M., Reda, S., Farber, C. L., Meyts, I., Velbri, S., Kanariou, M., Farmaki, E., Papadopoulou Alataki, E., Trachana, M., Richter, D., Blaziene, A., Seidel, M., Marques, L., Feighery, C., Cucuruz, M., Konoplyannikova, J., Paschenko, O., Shcherbina, A., Berglof, A., Jardefors, H., Wargstrom, P., Brodszki, N., Cantoni, N., Dupenthaler, A., Fahrni, G., Hoernes, M., Sahbacher, U., Pasic, S., Ciznar, P., Jeverica, A. K., Litzman, J., Hlavackova, E., Savchak, I., Farkas, H., and Marodi, L.
Abstract: In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Since its start in 2004, 13,708 patients from 41 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity with 2880 patients or 21% of all entries, followed by selective immunoglobulin A (sIgA) deficiency (1424 patients, 10·4%). The total documented prevalence of PID is highest in France, with five patients per 100,000 inhabitants. The highest documented prevalence for a single disease is 1·3 per 100,000 inhabitants for sIgA deficiency in Hungary. The highest reported incidence of PID per 100,000 live births was 16·2 for the period 1999-2002 in France. The highest reported incidence rate for a single disease was 6·7 for sIgA deficiency in Spain for the period 1999-2002. The genetic cause was known in 36·2% of all registered patients. Consanguinity was reported in 8·8%, and 18·5% of patients were reported to be familial cases; 27·9% of patients were diagnosed after the age of 16. We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement.
Published: 2012

27. Performance of different diagnostic criteria for familial Mediterranean fever in children with periodic fevers: results from a multicenter international registry

Author: Demirkaya, E, Saglam, C, Turker, T, Koné Paut, I, Woo, P, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Ozaltin, F, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Kuemmerle Deschner, J, Neven, B, Lachmann, H, Martini, A, Ruperto, N, Gattorno, M, Ozen, S., Rigante, Donato (ORCID:0000-0001-7032-7779), Demirkaya, E, Saglam, C, Turker, T, Koné Paut, I, Woo, P, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Ozaltin, F, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Kuemmerle Deschner, J, Neven, B, Lachmann, H, Martini, A, Ruperto, N, Gattorno, M, Ozen, S., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed. RESULTS: The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria. CONCLUSION: The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
Published: 2016

28. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Author: Gathmann B., Grimbacher B., Beauté J., Dudoit Y., Mahlaoui N., Fischer A., Knerr V., Kindle G., Micol R., Benslama L., Plebani A., Notarangelo L., PIGNATA, CLAUDIO, Bangs C., Lucas M., Tierney P., Core C., Dempster J., Exley A., Kumararatne D., Paschenko O., Kondratenko I., Shcherbina A., Velbri S., Ciznar P., Duobiene R., Kilic S., Kütükcüler N., Sanal O., Reisli I., Yegin O., Kanariou M., Papadopoulou Alataki E., Trachana M., Hatzistilianou M., Farber C.M., Meyts I., Pasic S., Richter D., Marodi L., Touitou I., Abuzakouk M., Feighery C., Thon V., Litzman J., Cucuruz M., Wolska B., Szaflarska A., Reda S., Soler P., Caragol I., Llobet P., Savchak I., Marques L., Koren A., Hörnes M., Shchebet S., Goldacker S., Ritterbusch H., Fasshauer M., Sollinger F., Witte T., Baumann U., Wittkowski H., Viemann D., Niehues T., Stimm H., Brodszki N., Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Gathmann, B., Grimbacher, B., Beauté, J., Dudoit, Y., Mahlaoui, N., Fischer, A., Knerr, V., Kindle, G., Micol, R., Benslama, L., Plebani, A., Notarangelo, L., Pignata, Claudio, Bangs, C., Lucas, M., Tierney, P., Core, C., Dempster, J., Exley, A., Kumararatne, D., Paschenko, O., Kondratenko, I., Shcherbina, A., Velbri, S., Ciznar, P., Duobiene, R., Kilic, S., Kütükcüler, N., Sanal, O., Reisli, I., Yegin, O., Kanariou, M., Papadopoulou Alataki, E., Trachana, M., Hatzistilianou, M., Farber, C. M., Meyts, I., Pasic, S., Richter, D., Marodi, L., Touitou, I., Abuzakouk, M., Feighery, C., Thon, V., Litzman, J., Cucuruz, M., Wolska, B., Szaflarska, A., Reda, S., Soler, P., Caragol, I., Llobet, P., Savchak, I., Marques, L., Koren, A., Hörnes, M., Shchebet, S., Goldacker, S., Ritterbusch, H., Fasshauer, M., Sollinger, F., Witte, T., Baumann, U., Wittkowski, H., Viemann, D., Niehues, T., Stimm, H., and Brodszki, N.
Subjects: Male, Databases, Factual, Quality Assurance, Health Care, International Cooperation, PID controller, registry, 0302 clinical medicine, Epidemiology, Prevalence, Immunology and Allergy, Data Protection Act 1998, Registries, Child, ComputingMilieux_MISCELLANEOUS, Password, ESID, 0303 health sciences, Immunoglobulins, Intravenous, Middle Aged, 3. Good health, Europe, Identification (information), Child, Preschool, Female, The Internet, epidemiology, Adult, medicine.medical_specialty, Adolescent, Immunology, online database, primary immunodeficiency, Young Adult, 03 medical and health sciences, medicine, Humans, Aged, 030304 developmental biology, Internet, business.industry, Immunologic Deficiency Syndromes, Infant, Newborn, Online database, Infant, Original Articles, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Primary immunodeficiency, business, 030215 immunology
Abstract: Summary Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20·7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7·4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3·72 patients per 100 000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment.
Published: 2009
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29. Perspective validation of the Eurofever classification criteria for monogenic fevers

Author: Federici, S, Dolezalova, P, Cantarini, L, Papadopoulou-Alataki, E, Alessio, M, Herlin, Troels, Gueli, I, Modesto, C, Fabio, G, Maggio, MC, Rua Borduy, MJ, Garibotto, F, Insalaco, A, Kozlova, A, Anton, J, Birk, R, Frenkel, J, Hoppenreijs, E, Sormani, MP, Martini, A, and Gattorno, M.
Published: 2014

30. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Author: Gathmann, B., Mahlaoui, N., Gerard, L., Oksenhendler, E., Warnatz, K., Schulze, I., Kindle, G., Kuijpers, T.W., Dutch, W.I.D., Beem, R.T. van, Guzman, D., Workman, S., Soler-Palacin, P., Gracia, J., Witte, T. de, Schmidt, R.E., Litzman, J., Hlavackova, E., Thon, V., Borte, M., Borte, S., Kumararatne, D., Feighery, C., Longhurst, H., Helbert, M., Szaflarska, A., Sediva, A., Belohradsky, B.H., Jones, A., Baumann, U., Meyts, I., Kutukculer, N., Wagstrom, P., Galal, N.M., Roesler, J., Farmaki, E., Zinovieva, N., Ciznar, P., Papadopoulou-Alataki, E., Bienemann, K., Velbri, S., Panahloo, Z., Grimbacher, B., Meer, L.T. van der, Deuren, M. van, Netea, M.G., Meer, J.W.M. van der, AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology, and Nephrology
Subjects: Male, Pediatrics, Delayed Diagnosis, granulomas, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, Autoimmunity, Quality of life, Interquartile range, Immunology and Allergy, Medicine, Enteropathy, Age of Onset, Child, Respiratory tract infections, biology, treatment, autoimmunity, Immunoglobulins, Intravenous, 3. Good health, Bronchiectasis, Europe, Child, Preschool, Female, Antibody, patient self-reported outcomes, Adult, medicine.medical_specialty, immunoglobulin replacement, Adolescent, Immunology, Lymphoproliferative disorders, Common variable immunodeficiency, lymphadenopathy, Humans, Retrospective Studies, business.industry, Pneumonia, medicine.disease, Survival Analysis, Lymphoproliferative Disorders, quality of life, enteropathy, Splenomegaly, biology.protein, primary antibody deficiency, business
Abstract: Item does not contain fulltext BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders. OBJECTIVE: This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe. METHODS: Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively. RESULTS: Early disease onset (
Published: 2014

31. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting

Author: Zanichelli, Andrea, primary, Longhurst, Hilary J., additional, Maurer, Marcus, additional, Bouillet, Laurence, additional, Aberer, Werner, additional, Fabien, Vincent, additional, Andresen, Irmgard, additional, Caballero, Teresa, additional, Aberer, W., additional, Grumach, A., additional, Bygum, A., additional, Blanchard Delaunay, C., additional, Bouillet, L., additional, Coppere, B., additional, Fain, O., additional, Goichot, B., additional, Gompel, A., additional, Guez, S., additional, Jeandel, P., additional, Kanny, G., additional, Launay, D., additional, Maillard, H., additional, Martin, L., additional, Masseau, A., additional, Ollivier, Y., additional, Sobel, A., additional, Arnolds, J., additional, Aygören-Pürsün, E., additional, Baş, M., additional, Bauer, A., additional, Bork, K., additional, Martinez, I., additional, Maurer, M., additional, Papadopoulou-Alataki, E., additional, Psarros, F., additional, Graif, Y., additional, Kivity, S., additional, Reshef, A., additional, Toubi, E., additional, Arcoleo, F., additional, Cicardi, M., additional, Manconi, P., additional, Marone, G., additional, Montinaro, V., additional, Baeza, M.L., additional, Caballero, T., additional, Cabañas, R., additional, Guilarte, M., additional, Hernandez de Rojas, D., additional, Hernando de Larramendi, C., additional, Lleonart, R., additional, Lobera, T., additional, Sáenz de San Pedro, B., additional, Bjorkander, J., additional, Helbert, M., additional, and Longhurst, H.J., additional
Published: 2016
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32. Treatment of autoinflammatory diseases: results from the Eurofeverregistry and a literature review

Author: Ter Haar, N, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yusef, Modesto, C, Kone-Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al-Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou-Alataki, E, Martino, S, Kuemmerle-Deschner, J, Obici, L, Iagaru, N, Simon, A, Herlin, Troels, Nielsen, Susan, Martini, A, Ruperto, N, Gattorno, Marco, and Frenkel, J
Published: 2013

33. Validation of pediatric diagnostic criteria in FMF

Author: Demirkaya, E, Ozen, S, Saglam, C, Turker, T, Duzova, A, Woo, P, Konè Paut, I, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Ruperto, N, and Gattorno, M.
Subjects: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Autoinflammation
Published: 2013

34. Perspective validation of the eurofever classification criteria for monogenic periodic fevers

Author: Federici, Silvia, primary, Dolezalova, P, additional, Cantarini, L, additional, Papadopoulou-Alataki, E, additional, Alessio, M, additional, Herlin, T, additional, Gueli, I, additional, Modesto, C, additional, Fabio, G, additional, Maggio, MC, additional, Elorduy, MJ Rua, additional, Garibotto, F, additional, Insalaco, A, additional, Kozlova, A, additional, Anton, J, additional, Brik, R, additional, Frenkel, J, additional, Hoppenreijs, E, additional, Sormani, MP, additional, Martini, Alberto, additional, and Gattorno, Marco, additional
Published: 2014
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35. Apelin and G212A apelin receptor gene polymorphism in obese and diabese youth

Author: Kotanidou, E. P., primary, Kalinderi, K., additional, Kyrgios, I., additional, Efraimidou, S., additional, Fidani, L., additional, Papadopoulou-Alataki, E., additional, Eboriadou-Petikopoulou, M., additional, and Galli-Tsinopoulou, A., additional
Published: 2014
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36. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author: Haar, N. Ter, Lachmann, H., Ozen, S., Woo, P., Uziel, Y., Modesto, C., Kone-Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al-Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou-Alataki, E., Martino, S., Kuemmerle-Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., et al., Haar, N. Ter, Lachmann, H., Ozen, S., Woo, P., Uziel, Y., Modesto, C., Kone-Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al-Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou-Alataki, E., Martino, S., Kuemmerle-Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and et al.
Abstract: Item does not contain fulltext, OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
Published: 2013

37. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author: Ter Haar, N, Lachmann, H, Özen, S, Woo, P, Uziel, Y, Modesto, C, Koné Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou Alataki, E, Martino, S, Kuemmerle Deschner, J, Obici, L, Iagaru, N, Simon, A, Martini, A, Manna, Raffaele, Ruperto, N, Gattorno, M, Frenkel, J., Manna, Raffaele (ORCID:0000-0003-1560-3907), Ter Haar, N, Lachmann, H, Özen, S, Woo, P, Uziel, Y, Modesto, C, Koné Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou Alataki, E, Martino, S, Kuemmerle Deschner, J, Obici, L, Iagaru, N, Simon, A, Martini, A, Manna, Raffaele, Ruperto, N, Gattorno, M, Frenkel, J., and Manna, Raffaele (ORCID:0000-0003-1560-3907)
Abstract: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.
Published: 2013

38. Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece

Author: Speletas, M Kanariou, M Kanakoudi-Tsakalidou, F and Papadopoulou-Alataki, E Arvanitidis, K Pardali, E and Constantopoulos, A Kartalis, G Vihinen, M Sideras, P and Ritis, K
Subjects: hemic and lymphatic diseases
Abstract: Bruton’s tyrosine kinase (Btk) is a nonreceptor tyrosine kinase, critical for B-cell development and function. Mutations that inactivate this kinase were found in families with X-linked agammaglobulinaemia (XLA). In this study the Btk gene was analyzed in 13 registered Greek patients with XLA phenotype originated from 12 unrelated families, in order to provide a definite diagnosis of the XLA. The structure of Btk was analyzed at the cDNA level using the recently developed method, NIRCA (Non-Isotopic-Rnase-Cleavage-Assay). Alterations were detected in all patients and sequencing analysis confirmed the results and defined six novel XLA-associated Btk mutations (three missense mutations: C337G, L346R, L452P; one nonsense mutation: Y392X, and two frameshift alterations: cl211-1212delA, c1306-1307insA). Having defined the genetic alteration in the affected males of these families, the information was used to design polymerase chain reaction (PCR) primers and the Btk segments containing the mutated sequences were amplified from peripheral blood derived genomic DNA of potential female carriers. The PCR products were directly sequenced and carrier status was determined in 12 out of 16 phenotypically normal females analyzed. This protocol can be used once the nature of the Btk mutation has been defined in one of the affected males and provides a convenient, simple and reliable way to determine the carrier status of other female family members. Molecular genetic analysis constitutes a determinative tool for the definitive diagnosis of XLA and may allow accurate carrier and prenatal diagnosis for genetic counselling.
Published: 2001

39. PReS-FINAL-2207: Results from a multicenter international registry of Familial Mediterranean Fever: validation of the new set of pediatric diagnostic criteria

Author: Demirkaya, E, primary, Ozen, S, additional, Saglam, C, additional, Turker, T, additional, Duzova, A, additional, Woo, P, additional, Konè-Paut, I, additional, Doglio, M, additional, Amarian, G, additional, Frenkel, J, additional, Uziel, Y, additional, Insalaco, A, additional, Cantarini, L, additional, Hofer, M, additional, Boiu, S, additional, Modesto, C, additional, Bryant, A, additional, Rigante, D, additional, Papadopoulou-Alataki, E, additional, Guillaume-Czitrom, S, additional, Ruperto, N, additional, and Gattorno, M, additional
Published: 2013
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40. THU0334 Differences in the features of familial mediterranean fever among patients from europe as compared to those from the eastern mediterranean countries

Author: Ozen, S., primary, Demirkaya, E., additional, Amaryan, G., additional, Koné-Paut, I., additional, Woo, P., additional, Uziel, Y., additional, Finetti, M., additional, Quartier, P., additional, Modesto, C., additional, Papadopoulou-Alataki, E., additional, Nielsen, S., additional, Hofer, M., additional, Polat, A., additional, Turker, T., additional, Insalaco, A., additional, Cantarini, L., additional, Al-Mayouf, S.M., additional, Frenkel, J., additional, Ozdogan, H., additional, Ruperto, N., additional, and Gattorno, M., additional
Published: 2013
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41. Therapy of autoinflammatory diseases: results from an international registry

Author: ter Haar, NM, primary, Frenkel, J, additional, Woo, P, additional, Cantarini, L, additional, Lachmann, H, additional, Insalaco, A, additional, Hofer, M, additional, Uziel, Y, additional, Ozen, S, additional, Nielsen, S, additional, Naselli, A, additional, Modesto, C, additional, Al-Mayouf, SM, additional, Kone-Paut, I, additional, Nikishina, I, additional, Iagaru, N, additional, Obici, L, additional, Papadopoulou-Alataki, E, additional, Rigante, D, additional, Boros, C, additional, Martini, A, additional, Ruperto, N, additional, and Gattorno, M, additional
Published: 2011
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42. Analysis ofBtkMutations in Patients with X-Linked Agammaglobulinaemia (XLA) and Determination of Carrier Status in Normal Female Relatives: a Nationwide Study ofBtkDeficiency in Greece

Author: Speletas, M., primary, Kanariou, M., additional, Kanakoudi-Tsakalidou, F., additional, Papadopoulou-Alataki, E., additional, Arvanitidis, K., additional, Pardali, E., additional, Constantopoulos, A., additional, Kartalis, G., additional, Vihinen, M., additional, Sideras, P., additional, and Ritis, K., additional
Published: 2001
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43. Upper airway considerations in hereditary angioedema.

Author: Papadopoulou-Alataki E
Published: 2010
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44. Clinical and biochemical manifestations of syndrome X in obese children.

Author: Papadopoulou-Alataki, E., Papadopoulou-Legbelou, K., Doukas, Loukas, Karatzidou, Kiparissia, Pavlitou-Tsiontsi, Aikaterini, Pagkalos, Emmanouil, Papadopoulou-Alataki, Efimia, and Papadopoulou-Legbelou, Kiriaki
Subjects: *CHILDHOOD obesity, *MEDICAL genetics, *BIOCHEMICAL genetics, *INSULIN resistance, *GLUCOSE tolerance tests, *PEDIATRIC diagnosis, *BLOOD pressure, *BLOOD sugar, *LIPOPROTEINS, *OBESITY, *METABOLIC syndrome, *BODY mass index, *CASE-control method
Abstract: Unlabelled: The aim of this study was to investigate whether the clinical and metabolic characteristics of syndrome X had their onset in childhood in otherwise healthy but obese children of Greek origin. A group of 25 obese children and 18 age- and sex matched control subjects, aged 6-14 years, underwent an oral glucose tolerance test (OGTT), assessed for determination of plasma glucose and insulin levels. Insulin sensitivity and insulin resistance were estimated by mathematical models using calculations obtained during the OGTT. Body mass index (BMI) and blood pressure were measured, as well as serum lipoprotein and aminotransferase concentrations, after an overnight fast. The obese children had significantly higher blood pressure (systolic and diastolic) (P<0.001), triglycerides, lipoprotein(a) and alanine aminotransferase levels (P<0.05) and significantly lower HDL-cholesterol and apolipoprotein A-1 values (P<0.001). Plasma glucose levels during the OGTT were similar in both obese children and control subjects, while plasma insulin levels were significantly higher in obese children (P<0.01). In mathematical models, mean values of insulin sensitivity predictors: metabolic clearance rate and insulin sensitivity index were significantly lower in obese children (P<0.001). Predictors of beta-cell function: insulin resistance index and insulin release index were significantly higher in obese children (P<0.001).Conclusion: Childhood adiposity was associated with all traditional components of syndrome X. The early recognition of these factors as predisposing elements of the appearance of metabolic syndrome requires the development of strategies to manage excess weight gain during childhood, with the ultimate goal being the prevention of type 2 diabetes and cardiovascular disease in adulthood. [ABSTRACT FROM AUTHOR]
Published: 2004
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45. Perspective validation of the eurofever classification criteria for monogenic periodic fevers

Author: Federici S, Dolezalova P, Cantarini L, Papadopoulou-Alataki E, Alessio M, Herlin T, Gueli I, Modesto C, Giovanna Fabio, Maggio M, Elorduy MR, Garibotto F, Insalaco A, Kozlova A, Anton J, Brik R, Frenkel J, Hoppenreijs E, Sormani M, Martini A, Federici S, Dolezalova P, Cantarini L, Papadopoulou-Alataki E, Alessio M, Herlin T, Gueli I, Modesto C, Fabio G, Maggio MC, Rua Elorduy MJ, Garibotto F, Insalaco A, Kozlova A, Anton J, Brik R, Frenkel J, Hoppenreijs E, Sormani MP, Martini A, and Gattorno M
Subjects: Settore MED/38 - Pediatria Generale E Specialistica, eurofever classification criteria, monogenic periodic fevers
Abstract: We recently proposed a set of provisional, evidence-based, clinical criteria for the classification of children and adults patients affected by monogenic periodic fevers. These criteria, built and validated in a cohort of 1215 patients with periodic fever enrolled in the Eurofever Registry from November 2009 to February 2013, displayed a high sensitivity and specificity.

46. Intavenous immunoglobulin for the management of intractable epilepsy in a boy

Author: Papadopoulou-Alataki, E., Kyriakos Garganis, Dalpa, E., Alataki, S., and Spilioti, M.
Subjects: Case Report
Abstract: Background: The involvement of the immune system in the pathogenesis of certain types of epilepsy has been supported in the past. The use of intravenous immunoglobulin in the treatment of neurologic diseases has shown a progressive trend over the last years.

47. Therapy of autoinflammatory diseases: results from an international registry.

Author: Haar, N. M. ter, Frenkel, J., Woo, P., Cantarini, L., Lachmann, H., Insalaco, A., Hofer, M., Uziel, Y., Ozen, S., Nielsen, S., Naselli, A., Modesto, C., Al-Mayouf, S. M., Kone-Paut, I., Nikishina, I., Iagaru, N., Obici, L., Papadopoulou-Alataki, E., Rigante, D., and Boros, C.
Subjects: DISEASES
Abstract: An abstract of the conference paper "Therapy of autoinflammatory diseases: results from an international registry," by S. Ozen, and colleagues, is presented.
Published: 2011
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48. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author: Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.
Subjects: 0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract: BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Published: 2021

49. The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

Author: Marta Bustaffa, Isabelle Koné-Paut, Seza Ozen, Gayane Amaryan, Efimia Papadopoulou-Alataki, Romina Gallizzi, Maria Carrabba, Yonatan Butbul Aviel, Luca Cantarini, Maria Alessio, Jordi Anton, Laura Obici, Faysal Gok, Ezgi Deniz Batu, Estefania Moreno, Paul Brogan, Maria Trachana, Gabriele Simonini, Donato Rigante, Yosef Uziel, Antonella Insalaco, Maria Cristina Maggio, Nicolino Ruperto, Marco Gattorno, L. Rossi Semerano, Bustaffa M., Kone-Paut I., Ozen S., Amaryan G., Papadopoulou-Alataki E., Gallizzi R., Carrabba M., Aviel Y.B., Cantarini L., Alessio M., Anton J., Obici L., Gok F., Batu E.D., Moreno E., Brogan P., Trachana M., Simonini G., Rigante D., Uziel Y., Insalaco A., Maggio M.C., Ruperto N., Gattorno M., and Semerano L.R.
Subjects: Male, Genetic analysis, Autoinflammatory diseases, Pyrin, Familial Mediterranean fever, Classification criteria, Cohort Studies, Anesthesiology and Pain Medicine, Rheumatology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Mutation, Familial mediterranean fever, Humans, Female, Registry, Registries, Autoinflammatory diseases, Classification criteria, Familial mediterranean fever, Genetic analysis, Recurrent fevers, Registry, Cohort Studies, Colchicine, Female, Humans, Male, Mutation, Pyrin, Registries, Familial Mediterranean Fever, Colchicine, Recurrent fevers
Abstract: INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available for 1012 FMF (532 males/480 females, 827 children/185 adults) from 119 centres. Complete data were available for 887 patients in whom 623 (70.2%) satisfied EPCC (EPCC+), while 264 (29.8%) did not (EPCC-). The majority of the EPCC- patients (172, 65.1%) displayed negative or non-informative genetics (monoallelic or biallelic benign variants, monoallelic variant of unknown significance). At baseline, colchicine was used in most of EPCC+ patients (88%) and in a lower percentage of EPCC- patients (69%, p
Published: 2022

50. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Author: Joost Frenkel, Valda Stanevica, Michael Hofer, Francesco Licciardi, Antonella Insalaco, Rolando Cimaz, Riccardo Papa, Alma Nunzia Olivieri, Nienke M. ter Haar, Nicolino Ruperto, Susan Nielsen, Paul A. Brogan, Consuelo Modesto, Nicolae Iagaru, Marco Gattorno, Sarka Fingerhutova, Charlotte Eijkelboom, Antonio Vitale, Marielle E. van Gijn, Luca Cantarini, Marija Jelušić, Yosef Uziel, Gordana Susic, Efimia Papadopoulou-Alataki, Isabelle Koné-Paut, Irina Nikishina, Ter Haar, Nm, Eijkelboom, C, Cantarini, L, Papa, R, Brogan, Pa, Kone-Paut, I, Modesto, C, Hofer, M, Iagaru, N, Fingerhutová, S, Insalaco, A, Licciardi, F, Uziel, Y, Jelusic, M, Nikishina, I, Nielsen, S, Papadopoulou-Alataki, E, Olivieri, An, Cimaz, R, Susic, G, Stanevica, V, van Gijn, M, Vitale, A, Ruperto, N, Frenkel, J, and Gattorno, M
Subjects: Male, myalgia, Abdominal pain, Biochemistry, 0302 clinical medicine, eurofever, Adrenal Cortex Hormones, autoinflammatory diseases, inflammation, recurrent fever, Immunology and Allergy, Registries, Age of Onset, Child, 0303 health sciences, Pedigree, 3. Good health, Europe, Child, Preschool, Antirheumatic Agents, Adolescent, Adult, Chronic Disease, Colchicine, Female, Genetic Variation, Hereditary Autoinflammatory Diseases, Humans, Interleukin 1 Receptor Antagonist Protein, Retrospective Studies, Young Adult, medicine.symptom, medicine.drug, medicine.medical_specialty, Immunology, Mucocutaneous zone, General Biochemistry, Genetics and Molecular Biology, Malaise, 03 medical and health sciences, Pericarditis, Rheumatology, Internal medicine, Journal Article, medicine, Recurrent disease, Preschool, 030304 developmental biology, 030203 arthritis & rheumatology, Anakinra, Biochemistry, Genetics and Molecular Biology(all), business.industry, medicine.disease, business, Genetics and Molecular Biology(all)
Abstract: ObjectivesTo describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).MethodsClinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases.ResultsThis study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%).ConclusionThis study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
Published: 2019

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