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3. Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

Author

Ezgi Yalcin Gungoren, Zeynep Meric, Asena Pinar Sefer, Asuman Deveci Ozkan, Salim Can, Royala Babayeva, Nurhan Kasap, Ercan Nain, Esra Ozek Yucel, Ayca Kiykim, Sevgi Bilgic-Eltan, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Ahmet Ozen, and Safa Baris

Subjects
Pediatrics, RJ1-570
Abstract

Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease. Aim of this study is to present 4 new cases to provide information on the rare features of the disease and to raise awareness. Materials and Methods: This study included 4 female patients with prolidase deficiency. Their demographic, clinical, and immunologic characteristics were obtained from their medical records. Results: There were 4 female patients (P1-P4), with a mean age of 18.5 years (min-max: 10-29) and a mean age of symptom onset of 6.9 years (min-max: 0.04-27). The main presenting complaints of the patients were skin lesions (100%), dysmorphic features (100%), neurodevelopmental delay (100%), frequent infections (100%), and prolonged diarrhea (50%). P2 had diffuse large B-cell lymphoma, resulting in early death. Interestingly, P1 and P2 experienced opportunistic infections such as cytomegalovirus, Epstein-Barr virus, and Pneumocystis jirovecii. Three patients (75%) had lymphopenia. Two patients had elevated IgE levels. Lymphocyte subgroup analysis showed an inverted CD4/CD8 ratio in all patients. In patients P1 and P2, the percentages of naive T cells and recent thymic emigrants were reduced, suggesting combined immune deficiency at the time of diagnosis. CD19+ B cells were also low in P1 and P2. Metabolic evaluations revealed low prolidase enzyme activity in P1 and P2. Conclusion: Beyond the well-known classical dermatological findings, the presence of recurrent opportunistic infections, gastrointestinal involvement, malignancy, and flow cytometry findings suggestive of combined immunodeficiency indicate that the diagnosis of prolidase deficiency may be underestimated. Knowing the atypical and rare presentations will facilitate diagnosis and treatment of affected patients.

Published
2025
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5. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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9. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

Author

Muntau, Ania C, Longo, Nicola, Ezgu, Fatih, Schwartz, Ida Vanessa D, Lah, Melissa, Bratkovic, Drago, Margvelashvili, Lali, Kiykim, Ertugrul, Zori, Roberto, Campistol Plana, Jaume, Bélanger-Quintana, Amaya, Lund, Allan, Guilder, Laura, Chakrapani, Anupam, Mungan, Halise Neslihan, Guimas, Arlindo, Cabrales Guerra, Ixiu del Carmen, MacDonald, Anita, Ingalls, Kimberly, Sacharow, Stephanie, Minami, Maria Avanise Yumi, Rutsch, Frank, Tchan, Michel, Peters, Heidi, Khan, Aneal, Vijay, Suresh, Opladen, Thomas, Northrup, Hope, Oliveira, Anabela, Feillet, François, Agladze, Dodo, Hughes, Catalina, Larkin, Alexandra, Milner, Sarah, Gao, Lan, Greenbaum, Rochelle, Zhao, Zhenming, and Smith, Neil

Published
2024
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10. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort

Author

Gulec Koksal, Zeynep, Bilgic Eltan, Sevgi, Topyildiz, Ezgi, Sezer, Ahmet, Keles, Sevgi, Celebi Celik, Figen, Ozhan Kont, Aylin, Gemici Karaaslan, Betul, Sefer, Asena Pinar, Karali, Zuhal, Arik, Elif, Ozek Yucel, Esra, Akcal, Omer, Karakurt, Leman Tuba, Yorgun Altunbas, Melek, Yalcin, Koray, Uygun, Vedat, Ozek, Gulcihan, Babayeva, Royala, Aydogmus, Cigdem, Ozcan, Dilek, Cavkaytar, Ozlem, Keskin, Ozlem, Kilic, Sara Sebnem, Kiykim, Ayca, Arikoglu, Tugba, Genel, Ferah, Gulez, Nesrin, Guner, Sukru Nail, Karaca, Neslihan Edeer, Reisli, Ismail, Kutukculer, Necil, Altintas, Derya Ufuk, Ozen, Ahmet, Karakoc Aydiner, Elif, and Baris, Safa

Published
2024
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11. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency

Author

Rosain, Jérémie, Kiykim, Ayca, Michev, Alexandre, Kendir-Demirkol, Yasemin, Rinchai, Darawan, Peel, Jessica N., Li, Hailun, Ocak, Suheyla, Ozdemir, Pinar Gokmirza, Le Voyer, Tom, Philippot, Quentin, Khan, Taushif, Neehus, Anna-Lena, Migaud, Mélanie, Soudée, Camille, Boisson-Dupuis, Stéphanie, Marr, Nico, Borghesi, Alessandro, Casanova, Jean-Laurent, and Bustamante, Jacinta

Published
2024
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13. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Author

Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, and Aktuğlu-Zeybek, Çiğdem

Published
2024
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14. Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Author

Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Eltan, Sevgi Bilgic, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Demirkol, Yasemin Kendir, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Heredia, Raul Jimenez, Kasap, Nurhan, Kiykim, Ayca, Yucel, Esra Ozek, Gok, Veysel, Unal, Ekrem, Kisaarslan, Aysenur Pac, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C, Ozen, Ahmet, Chatila, Talal A, and Baris, Safa

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Digestive Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Humans, Inflammatory Bowel Diseases, Microfilament Proteins, Mutation, Phenotype, Primary Immunodeficiency Diseases, CARMIL2, CD28 co-signaling, combined immune deficiency, inflammatory bowel disease, long-term follow-up, Allergy
Abstract

BackgroundBiallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.MethodsThe presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular helper (cTFH ) cells were analyzed. Three-dimensional (3D) migration assay was performed to determine T-cell shape.ResultsMean age at disease onset was 38 ± 23 months. Main clinical features were skin manifestations (n = 14, 93%), failure to thrive (n = 10, 67%), recurrent infections (n = 10, 67%), allergic symptoms (n = 8, 53%), chronic diarrhea (n = 4, 27%), and EBV-related leiomyoma (n = 2, 13%). Skin manifestations ranged from atopic and seborrheic dermatitis to psoriasiform rash. Patients had reduced proportions of memory CD4+ T cells, Treg, and cTFH cells. Memory B and NK cells were also decreased. CARMIL2-deficient T cells exhibited reduced T-cell proliferation and cytokine production following CD28 co-stimulation and normal morphology when migrating in a high-density 3D collagen gel matrix. IBD was the most severe clinical manifestation, leading to growth retardation, requiring multiple interventional treatments. All patients were alive with a median follow-up of 10.8 years (range: 3-17 years).ConclusionThis cohort provides clinical and immunological features and long-term follow-up of different manifestations of CARMIL2 deficiency.

Published
2022

15. Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

Author

Bilgic Eltan, Sevgi, Nain, Ercan, Catak, Mehmet Cihangir, Ezen, Ege, Sefer, Asena Pınar, Karimi, Nastaran, Kiykim, Ayca, Kolukisa, Burcu, Baser, Dilek, Bulutoglu, Alper, Kasap, Nurhan, Yorgun Altunbas, Melek, Yalcin Gungoren, Ezgi, Kendir Demirkol, Yasemin, Kutlug, Seyhan, Hancioglu, Gonca, Dilek, Fatih, Yildiran, Alisan, Ozen, Ahmet, Karakoc-Aydiner, Elif, Erman, Batu, and Baris, Safa

Published
2024
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16. Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease

Author

Bayram Catak, Feyza, Catak, Mehmet Cihangir, Babayeva, Royala, Toubia, John, Warnock, Nicholas I., Celmeli, Fatih, Hafizoglu, Demet, Yakici, Nalan, Kayaoglu, Basak, Surucu, Naz, Yalcin Gungoren, Ezgi, Can, Salim, Yorgun Altunbas, Melek, Karakus, Ibrahim Serhat, Kiykim, Ayca, Orhan, Fazil, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Ozen, Ahmet, Erman, Baran, Gursel, Mayda, Kok, Chung Hoow, Cildir, Gökhan, and Baris, Safa

Published
2024
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17. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author

Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, and Speckmann, Carsten

Published
2024
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18. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency

Author

Taghizade, Nigar, Babayeva, Royala, Kara, Altan, Karakus, Ibrahim Serhat, Catak, Mehmet Cihangir, Bulutoglu, Alper, Haskologlu, Zehra Sule, Akay Haci, Idil, Tunakan Dalgic, Ceyda, Karabiber, Esra, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Sefer, Asena Pinar, Sezer, Ahmet, Kokcu Karadag, Sefika Ilknur, Arik, Elif, Karali, Zuhal, Ozhan Kont, Aylin, Tuzer, Can, Karaman, Sait, Mersin, Selver Seda, Kasap, Nurhan, Celik, Enes, Kocacik Uygun, Dilara Fatma, Aydemir, Sezin, Kiykim, Ayca, Aydogmus, Cigdem, Ozek Yucel, Esra, Celmeli, Fatih, Karatay, Emrah, Bozkurtlar, Emine, Demir, Semra, Metin, Ayse, Karaca, Neslihan Edeer, Kutukculer, Necil, Aksu, Guzide, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Kendir Demirkol, Yasemin, Arikoglu, Tugba, Gulez, Nesrin, Genel, Ferah, Kilic, Sara Sebnem, Aytekin, Caner, Keskin, Ozlem, Yildiran, Alisan, Ozcan, Dilek, Altintas, Derya Ufuk, Ardeniz, Fatma Omur, Dogu, Esin Figen, Ikinciogullari, Kamile Aydan, Karakoc-Aydiner, Elif, Ozen, Ahmet, and Baris, Safa

Published
2023
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19. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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21. The prevalance, epidemiology and risk factors for onychomycosis in hemodialysis patients

Author

Satar Salim, Akcali Cenk, Duru Mehmet, Horoz Mehmet, Genctoy Gultekin, Çetin Meryem, Kuvandik Güven, Kiykim Ahmet A, and Kaya Hasan

Subjects
Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Onychomycosis has a high prevalance among immunocompromised patients such as diabetics and hemodialysis patients. In the present study, we aimed to investigate the prevalence of onychomycosis among hemodialysis patients with and without diabetes mellitus, and to find out the factors likely to be associated with the development of onychomycosis among hemodialysis patients. Methods One hundred and nine hemodialysis patients were enrolled. Fifty-seven of hemodialysis patients had the diagnosis of diabetes mellitus. Nail scrapings were obtained from 76 patients who had dystrophic nail changes. Samples were examined with 20% potassium hydroxide solution and all of the samples were inoculated on Saboraud's dextrose agar, potateus dextrose agar and mycobiotic agar. Diagnosis of onychomycosis was based on the presence of both positive clinical signs and positive potassium hydroxide test. Results Onychomycosis was diagnosed in 26.6% of hemodialysis patients. Diabetes mellitus was present in 68.9% of patients with onychomycosis. Toenail scraping cultures were reported to be positive in 19.7% of patients with dystrophic nail changes. Logistic regression analysis revealed that the presence of diabetes mellitus and the mean duration of hemodialysis were the significant predictors associated with the development of onychomycosis. Conclusion The prevalence of dystrophic nail changes and onychomycosis is increased among hemodialysis patients. The dialysis duration and the presence of diabetes mellitus are the independent risk factors associated with the development of onychomycosis in uraemic patients.

Published
2007
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22. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Author

Yakici, Nalan, Kreins, Alexandra Y., Catak, Mehmet Cihangir, Babayeva, Royala, Erman, Baran, Kenney, Heather, Gungor, Hatice Eke, Cea, Pablo A., Kawai, Tomoki, Bosticardo, Marita, Delmonte, Ottavia Maria, Adams, Stuart, Fan, Yu-Tong, Pala, Francesca, Turkyilmaz, Ayberk, Howley, Evey, Worth, Austen, Kot, Hakan, Sefer, Asena Pinar, Kara, Altan, Bulutoglu, Alper, Bilgic-Eltan, Sevgi, Altunbas, Melek Yorgun, Bayram Catak, Feyza, Karakus, Ibrahim Serhat, Karatay, Emrah, Tekeoglu, Sidem Didar, Eser, Metin, Albayrak, Davut, Citli, Senol, Kiykim, Ayca, Karakoc-Aydiner, Elif, Ozen, Ahmet, Ghosh, Sujal, Gohlke, Holger, Orhan, Fazil, Notarangelo, Luigi D., Davies, E. Graham, and Baris, Safa

Published
2023
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23. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan

Published
2023
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24. ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients

Author

Eken, Ahmet, Cansever, Murat, Okus, Fatma Zehra, Erdem, Serife, Nain, Ercan, Azizoglu, Zehra Busra, Haliloglu, Yesim, Karakukcu, Musa, Ozcan, Alper, Devecioglu, Omer, Aksu, Guzide, Ayyildiz, Zeynep Arikan, Topal, Erdem, Aydiner, Elif Karakoc, Kiykim, Ayca, Metin, Ayse, Cipe, Funda, Kaya, Aysenur, Artac, Hasibe, Reisli, Ismail, Guner, Sukru N, Uygun, Vedat, Karasu, Gulsun, Altuntas, Hamiyet Dönmez, Canatan, Halit, Oukka, Mohamed, Ozen, Ahmet, Chatila, Talal A, Keles, Sevgi, Baris, Safa, Unal, Ekrem, and Patiroglu, Turkan

Subjects
Prevention, Vaccine Related, Biodefense, Emerging Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Cytokines, Guanine Nucleotide Exchange Factors, Humans, Immunity, Innate, Job Syndrome, Lymphocytes, Mutation, DOCK8, Hyper-IgE syndrome, ILC, ILC3, STAT3, Hyper&#8208, IgE syndrome
Abstract

BackgroundDedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8-deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans.MethodsPeripheral blood ILC1-3 subsets of 16 DOCK8-deficient patients recruited at the pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, were compared with those of healthy controls or post-transplant DOCK8-deficient patients (n = 12) by flow cytometry and real-time qPCR. Sorted total ILCs from DOCK8- or STAT3-mutant patients and healthy controls were assayed for survival, apoptosis, proliferation, and activation by IL-7, IL-23, and IL-12 by cell culture, flow cytometry, and phospho-flow assays.ResultsDOCK8-deficient but not STAT3-mutant patients exhibited a profound depletion of ILC3s, and to a lesser extent ILC2s, in their peripheral blood. DOCK8-deficient ILC1-3 subsets had defective proliferation, expressed lower levels of IL-7R, responded less to IL-7, IL-12, or IL-23 cytokines, and were more prone to apoptosis compared with those of healthy controls.ConclusionDOCK8 regulates human ILC3 expansion and survival, and more globally ILC cytokine signaling and proliferation. DOCK8 deficiency leads to loss of ILC3 from peripheral blood. ILC3 deficiency may contribute to the susceptibility of DOCK8-deficient patients to infections.

Published
2020

26. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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28. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Author

Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, Belaid, Brahim, Al Dhaheri, Fatima, Haskologlu, Sule, Dogu, Figen, Ben-Mustapha, Imen, Sobh, Ali, Galal, Nermeen, Meshaal, Safa, Elhawary, Rabab, El-marsafy, Aisha, Alroqi, Fayhan J., Al-Saud, Bandar, Al-Ahmad, Mona, Al Farsi, Tariq, AL Sukaiti, Nashat, Al-Tamemi, Salem, Mehawej, Cybel, Dbaibo, Ghassan, ElGhazali, Gehad, Kilic, Sara Sebnem, Genel, Ferah, Kiykim, Ayca, Musabak, Ugur, Artac, Hasibe, Guner, Sukru Nail, Boukari, Rachida, Djidjik, Reda, Kechout, Nadia, Cagdas, Deniz, El-Sayed, Zeinab Awad, Karakoc-Aydiner, Elif, Alzyoud, Raed, Barbouche, Mohamed Ridha, Adeli, Mehdi, Wakim, Rima Hanna, Reda, Shereen M., Ikinciogullari, Aydan, Ozen, Ahmet, Bousfiha, Aziz, Al-Mousa, Hamoud, Rezaei, Nima, Al-Herz, Waleed, and Geha, Raif S.

Published
2023
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30. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, and Walter, Jolan E

Subjects
Autoimmune Disease, Genetics, Hematology, Inflammatory and immune system, Adolescent, Adult, Autoimmunity, Child, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Immunologic Deficiency Syndromes, Immunosuppressive Agents, Infant, Inflammation, Male, Middle Aged, Treatment Outcome, Young Adult, Recombination activating gene, Severe combined immunodeficiency, Immune dysregulation, Autoimmune cytopenias, Hematopoietic stem cell transplantation
Abstract

BACKGROUND:Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE:Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS:In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS:Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS:Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

32. Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Author

Gungoren, Ezgi Yalcin, Meric, Zeynep, Sefer, Asena Pinar, Ozkan, Asuman Deveci, Can, Salim, Babayeva, Royala, Kasap, Nurhan, Nain, Ercan, Yucel, Esra Ozek, Kiykim, Ayca, Bilgic-Eltan, Sevgi, Yucelten, Ayse Deniz, Karakoc-Aydiner, Elif, Ozen, Ahmet, and Baris, Safa

Abstract

Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease. Aim of this study is to present 4 new cases to provide information on the rare features of the disease and to raise awareness. Materials and Methods: This study included 4 female patients with prolidase deficiency. Their demographic, clinical, and immunologic characteristics were obtained from their medical records. Results: There were 4 female patients (P1-P4), with a mean age of 18.5 years (min-max: 10-29) and a mean age of symptom onset of 6.9 years (min-max: 0.04-27). The main presenting complaints of the patients were skin lesions (100%), dysmorphic features (100%), neurodevelopmental delay (100%), frequent infections (100%), and prolonged diarrhea (50%). P2 had diffuse large B-cell lymphoma, resulting in early death. Interestingly, P1 and P2 experienced opportunistic infections such as cytomegalovirus, Epstein-Barr virus, and Pneumocystis jirovecii. Three patients (75%) had lymphopenia. Two patients had elevated IgE levels. Lymphocyte subgroup analysis showed an inverted CD4/CD8 ratio in all patients. In patients P1 and P2, the percentages of naive T cells and recent thymic emigrants were reduced, suggesting combined immune deficiency at the time of diagnosis. CD19+ B cells were also low in P1 and P2. Metabolic evaluations revealed low prolidase enzyme activity in P1 and P2. Conclusion: Beyond the well-known classical dermatological findings, the presence of recurrent opportunistic infections, gastrointestinal involvement, malignancy, and flow cytometry findings suggestive of combined immunodeficiency indicate that the diagnosis of prolidase deficiency may be underestimated. Knowing the atypical and rare presentations will facilitate diagnosis and treatment of affected patients. [ABSTRACT FROM AUTHOR]

Published
2025
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33. Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.

Author

Bekis Bozkurt, Hayrunnisa, Bayram Catak, Feyza, Sahin, Ali, Yalcin Gungoren, Ezgi, Gemici Karaarslan, Betul, Yakici, Nalan, Yorgun Altunbas, Melek, Catak, Mehmet Cihangir, Can, Salim, Amirov, Razin, Bozkurt, Selcen, Ozturk, Necmiye, Bilgic Eltan, Sevgi, Kasap, Nurhan, Bal Cetinkaya, Fatma, Orhan, Fazil, Arga, Mustafa, Cavkaytar, Ozlem, Kiykim, Ayca, and Karakoc-Aydiner, Elif

Subjects
HEMATOPOIETIC stem cell transplantation, LYMPHOCYTE subsets, REGULATORY T cells, SYMPTOMS, DIAGNOSIS
Abstract

Purpose: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis and management of IPEX. We sought to present clinical, genetic, and immunological assessments of 12 IPEX patients with long-term follow-up to facilitate the diagnosis and management of the disease. Methods: Clinical findings and treatment options of the patients were collected over time. Lymphocyte subpopulations, protein expressions, regulatory T (Treg) and circulating T follicular helper (cTFH) cells, and T-cell proliferation were analyzed. Results: Predominant presentations included autoimmunity (91.6%), failure to thrive (66.7%), and eczema (58.3%). There were four classical and eight atypical IPEX individuals. Allergic manifestations were more common in atypical patients. Notably, chronic diarrhea demonstrated heightened severity compared to other manifestations. Four patients (33.3%) demonstrated eosinophilia, and nine (75%) showed high serum IgE levels. Most patients exhibited normal percentages of Treg cells with reduced CD25, FOXP3, and CTLA-4 expressions, corrected after hematopoietic stem cell transplantation (HSCT). Compared to healthy controls, the TH2-like skewing accompanied by reduced TH17-like responses was observed in cTFH and Treg cells of patients. Overall, nine patients (75%) received immunosuppressants (ISs), and six (50%) underwent HSCT, which was the only treatment revealing sustained control. Sirolimus was used in six patients and showed better control than other ISs. Conclusions: The first cohort from Turkey with long-term follow-up results, comparing typical and atypical cases, provides insights into the outcomes of different therapeutic modalities and T- cell subtype changes in IPEX syndrome. [ABSTRACT FROM AUTHOR]

Published
2025
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35. The epithelial barrier theory and its associated diseases.

Author

Sun, Na, Ogulur, Ismail, Mitamura, Yasutaka, Yazici, Duygu, Pat, Yagiz, Bu, Xiangting, Li, Manru, Zhu, Xueyi, Babayev, Huseyn, Ardicli, Sena, Ardicli, Ozge, D'Avino, Paolo, Kiykim, Ayca, Sokolowska, Milena, van de Veen, Willem, Weidmann, Lukas, Akdis, Deniz, Ozdemir, Banu Goker, Brüggen, Marie Charlotte, and Biedermann, Luc

Subjects
NON-communicable diseases, DISEASE exacerbation, DISEASE prevalence, DISEASE complications, DYSBIOSIS
Abstract

The prevalence of many chronic noncommunicable diseases has been steadily rising over the past six decades. During this time, over 350,000 new chemical substances have been introduced to the lives of humans. In recent years, the epithelial barrier theory came to light explaining the growing prevalence and exacerbations of these diseases worldwide. It attributes their onset to a functionally impaired epithelial barrier triggered by the toxicity of the exposed substances, associated with microbial dysbiosis, immune system activation, and inflammation. Diseases encompassed by the epithelial barrier theory share common features such as an increased prevalence after the 1960s or 2000s that cannot (solely) be accounted for by the emergence of improved diagnostic methods. Other common traits include epithelial barrier defects, microbial dysbiosis with loss of commensals and colonization of opportunistic pathogens, and circulating inflammatory cells and cytokines. In addition, practically unrelated diseases that fulfill these criteria have started to emerge as multimorbidities during the last decades. Here, we provide a comprehensive overview of diseases encompassed by the epithelial barrier theory and discuss evidence and similarities for their epidemiology, genetic susceptibility, epithelial barrier dysfunction, microbial dysbiosis, and tissue inflammation. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Therapeutic options for CTLA-4 insufficiency

Author

Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria-Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo

Published
2022
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37. Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

Author

Sefer, Asena Pinar, Abolhassani, Hassan, Ober, Franziska, Kayaoglu, Basak, Bilgic Eltan, Sevgi, Kara, Altan, Erman, Baran, Surucu Yilmaz, Naz, Aydogmus, Cigdem, Aydemir, Sezin, Charbonnier, Louis-Marie, Kolukisa, Burcu, Azizi, Gholamreza, Delavari, Samaneh, Momen, Tooba, Aliyeva, Simuzar, Kendir Demirkol, Yasemin, Tekin, Saban, Kiykim, Ayca, Baser, Omer Faruk, Cokugras, Haluk, Gursel, Mayda, Karakoc-Aydiner, Elif, Ozen, Ahmet, Krappmann, Daniel, Chatila, Talal A., Rezaei, Nima, and Baris, Safa

Published
2022
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38. Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

Author

Surucu Yilmaz, Naz, Bilgic Eltan, Sevgi, Kayaoglu, Basak, Geckin, Busranur, Heredia, Raul Jimenez, Sefer, Asena Pinar, Kiykim, Ayca, Nain, Ercan, Kasap, Nurhan, Dogru, Omer, Yucelten, Ayse Deniz, Cinel, Leyla, Karasu, Gulsun, Yesilipek, Akif, Sozeri, Betul, Kaya, Goksu Gokberk, Yilmaz, Ismail Cem, Baydemir, Ilayda, Aydin, Yagmur, Cansen Kahraman, Deniz, Haimel, Matthias, Boztug, Kaan, Karakoc-Aydiner, Elif, Gursel, Ihsan, Ozen, Ahmet, Baris, Safa, and Gursel, Mayda

Published
2022
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40. Primary antibody deficiencies in Turkey: molecular and clinical aspects

Author

Firtina, Sinem, Ng, Yuk Yin, Ng, Ozden H., Kiykim, Ayca, Ozek, Esra Yucel, Kara, Manolya, Aydiner, Elif, Nepesov, Serdar, Camcioglu, Yildiz, Sayar, Esra H., Gungoren, Ezgi Yalcin, Reisli, Ismail, Torun, Selda H., Haskologlu, Sule, Cogurlu, Tuba, Kaya, Aysenur, Cekic, Sukru, Baris, Safa, Ozbek, Ugur, Ozen, Ahmet, and Sayitoglu, Muge

Published
2022
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41. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

43. Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

Author

Meric, Zeynep, primary, Gemici Karaaslan, Betul, additional, Yalcin Gungoren, Ezgi, additional, Bektas Hortoglu, Melika, additional, Cavas, Tolga, additional, Aydemir, Sezin, additional, Bilgic Eltan, Sevgi, additional, Firtina, Sinem, additional, Kendir Demirkol, Yasemin, additional, Eser, Metin, additional, Cekic, Sukru, additional, Kilic, Suar, additional, Karasu, Gulsun, additional, Yesilipek, Mehmet Akif, additional, Eke Gungor, Hatice, additional, Karakoc‐Aydiner, Elif, additional, Ozen, Ahmet, additional, Baris, Safa, additional, Yucel, Esra, additional, Cokugras, Haluk, additional, and Kiykim, Ayca, additional

Published
2024
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44. Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: A Multicenter Analysis

Author

Bozkurt, Hayrunnisa Bekis, primary, Catak, Feyza Bayram, additional, Sahin, Ali, additional, Gungoren, Ezgi Yalcin, additional, Karaarslan, Betul Gemici, additional, Yakici, Nalan, additional, Altunbas, Melek Yorgun, additional, Catak, Mehmet Cihangir, additional, Can, Salim, additional, Amirov, Razin, additional, Bozkurt, Selcen, additional, Ozturk, Necmiye, additional, Eltan, Sevgi Bilgic, additional, Kasap, Nurhan, additional, Cetinkaya, Fatma Bal, additional, Orhan, Fazil, additional, Arga, Mustafa, additional, Cavkaytar, Ozlem, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, and Baris, Safa, additional

Published
2024
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46. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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48. Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections

Author

Harb, Hani, Benamar, Mehdi, Lai, Peggy S., Contini, Paola, Griffith, Jason W., Crestani, Elena, Schmitz-Abe, Klaus, Chen, Qian, Fong, Jason, Marri, Luca, Filaci, Gilberto, Del Zotto, Genny, Pishesha, Novalia, Kolifrath, Stephen, Broggi, Achille, Ghosh, Sreya, Gelmez, Metin Yusuf, Oktelik, Fatma Betul, Cetin, Esin Aktas, Kiykim, Ayca, Kose, Murat, Wang, Ziwei, Cui, Ye, Yu, Xu G., Li, Jonathan Z., Berra, Lorenzo, Stephen-Victor, Emmanuel, Charbonnier, Louis-Marie, Zanoni, Ivan, Ploegh, Hidde, Deniz, Gunnur, De Palma, Raffaele, and Chatila, Talal A.

Published
2021
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