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210 results on '"Barlogis, V."'

5. Évaluation du risque d’hypogammaglobulinémie dans les maladies bulleuses auto-immunes de l’enfant traitées par rituximab : étude observationnelle descriptive multicentrique rétrospective

Author

Benkimoun, S., Welfringer-Morin, A., Bourrat, E., Chiaverini, C., Léauté-Labrèze, C., Tedbirt, B., Joly, P., Bursztejn, A.C., Font, G., Miquel, J., Barlogis, V., Richard, M.A., and Mallet, S.

Abstract

La prise en charge des maladies bulleuses auto-immunes (MBAI) de l’enfant nécessite de plus en plus le recours au rituximab (RTX). L’objectif de cette étude était d’évaluer la prévalence de l’hypogammaglobulinémie (HGG) post-RTX dans cette indication.

Published
2024
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7. Multifocal Tuberculosis in 2021: What Place for Genetics?

Author

Gourdan, P., primary, Colanic, I., additional, Blanc, S., additional, Fina, A., additional, Baque-Juston, M., additional, Solla, F., additional, Giordano, A., additional, Hubiche, T., additional, Rohrlich, P., additional, Barlogis, V., additional, Bustamante, J., additional, Boisson-Dupuis, S., additional, and Giovannini-Chami, L., additional

Published
2022
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9. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

Author

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Published
2015
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13. Hematopoietic stem cell transplantation for CD40 ligand deficiency : Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Author

Ferrua, F., Galimberti, S., Courteille, V., Slatter, M.A., Booth, C., Moshous, D., Neven, B., Blanche, S., Cavazzana, M., Laberko, A., Shcherbina, A., Balashov, D., Soncini, E., Porta, F., Al-Mousa, H., Al-Saud, B., Al-Dhekri, H., Arnaout, R., Formankova, R., Bertrand, Y., Lange, A., Smart, J., Wolska-Kusnierz, B., Aquino, V.M., Dvorak, C.C., Fasth, A., Fouyssac, F., Heilmann, C., Hoenig, M., Schuetz, C., Kelecic, J., Bredius, R.G.M., Lankester, A.C., Lindemans, C.A., Suarez, F., Sullivan, K.E., Albert, M.H., Kalwak, K., Barlogis, V., Bhatia, M., Bordon, V., Czogala, W., Alonso, L., Dogu, F., Gozdzik, J., Ikinciogullari, A., Krivan, G., Ljungman, P., Meyts, I., Mustillo, P., Smith, A.R., Speckmann, C., Sundin, M., Keogh, S.J., Shaw, P.J., Boelens, J.J., Schulz, A.S., Sedlacek, P., Veys, P., Mahlaoui, N., Janda, A., Davies, E.G., Fischer, A., Cowan, M.J., Gennery, A.R., SCETIDE, PIDTC, EBMT, ESID IEWP, Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, and Gennery, A

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, X-Linked Combined Immunodeficiency Diseases, primary immunodeficiency, Donor lymphocyte infusion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, X-linked hyper-IgM syndrome, Humans, Medicine, Immunology and Allergy, Risk factor, Child, Prospective cohort study, business.industry, Infant, Newborn, Infant, medicine.disease, Treatment Outcome, 030104 developmental biology, medicine.anatomical_structure, Graft-versus-host disease, surgical procedures, operative, Supportive psychotherapy, Child, Preschool, hematopoietic stem cell transplantation, Primary immunodeficiency, Bone marrow, CD40 ligand, business, 030215 immunology
Abstract

BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). OBJECTIVE: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. METHODS: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. RESULTS: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow-derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. CONCLUSION: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy. ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY vol:143 issue:6 pages:2238-2253 ispartof: location:United States status: published

Published
2019

18. Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations inCYBB

Author

Mollin, M, primary, Beaumel, S, additional, Vigne, B, additional, Brault, J, additional, Roux-Buisson, N, additional, Rendu, J, additional, Barlogis, V, additional, Catho, G, additional, Dumeril, C, additional, Fouyssac, F, additional, Monnier, D, additional, Gandemer, V, additional, Revest, M, additional, Brion, J-P, additional, Bost-Bru, C, additional, Jeziorski, E, additional, Eitenschenck, L, additional, Jarrasse, C, additional, Drillon Haus, S, additional, Houachée-Chardin, M, additional, Hancart, M, additional, Michel, G, additional, Bertrand, Y, additional, Plantaz, D, additional, Kelecic, J, additional, Traberg, R, additional, Kainulainen, L, additional, Fauré, J, additional, Fieschi, F, additional, and Stasia, M J, additional

Published
2020
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19. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

Author

Aydin, S.E., Freeman, A.F., Al-Herz, W., Al-Mousa, H.A., Arnaout, R.K., Aydin, R.C., Barlogis, V., Belohradsky, B.H., Bonfim, C., Bredius, R.G., Chu, J.I., Ciocarlie, O.C., Dogu, F., Gaspar, H.B., Geha, R.S., Gennery, A.R., Hauck, F., Hawwari, A., Hickstein, D.D., Hoenig, M., Ikinciogullari, A., Klein, C., Kumar, A., Ifversen, M.R.S., Matthes, S., Metin, A., Neven, B., Pai, S.Y., Parikh, S.H., Picard, C., Renner, E.D., Sanal, O., Schulz, A.S., Schuster, F., Shah, N.N., Shereck, E.B., Slatter, M.A., Su, H.C., Montfrans, J. van, Woessmann, W., Ziegler, J.B., Albert, M.H., Inborn Errors Working Party Europe, and European Soc Primary Immunodefici

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, DOCK8 deficiency, medicine.medical_treatment, Graft vs Host Disease, Hematopoietic stem cell transplantation, Kaplan-Meier Estimate, Treosulfan, Article, Young Adult, Internal medicine, medicine, Journal Article, Immunology and Allergy, Guanine Nucleotide Exchange Factors, Humans, Child, Immunodeficiency, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Infant, Retrospective cohort study, medicine.disease, Combined immunodeficiency, Regimen, Graft-versus-host disease, surgical procedures, operative, Child, Preschool, Failure to thrive, HSCT, Female, medicine.symptom, business, Busulfan, medicine.drug
Abstract

BACKGROUND: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, but allogeneic hematopoietic stem cell transplantation (HSCT) can cure the disease.OBJECTIVE: To determine outcome of HSCT for DOCK8 deficiency and define possible outcome variables.METHODS: We performed a retrospective study of the results of HSCT in a large international cohort of DOCK8-deficient patients.RESULTS: We identified 81 patients from 22 centers transplanted at a median age of 9.7 years (range, 0.7-27.2 years) between 1995 and 2015. After median follow-up of 26 months (range, 3-135 months), 68 (84%) patients are alive. Severe acute (III-IV) or chronic graft versus host disease occurred in 11% and 10%, respectively. Causes of death were infections (n = 5), graft versus host disease (5), multiorgan failure (2), and preexistent lymphoma (1). Survival after matched related (n = 40) or unrelated (35) HSCT was 89% and 81%, respectively. Reduced-toxicity conditioning based on either treosulfan or reduced-dose busulfan resulted in superior survival compared with fully myeloablative busulfan-based regimens (97% vs 78%; P = .049). Ninety-six percent of patients younger than 8 years at HSCT survived, compared with 78% of those 8 years and older (P = .06). Of the 73 patients with chimerism data available, 65 (89%) had more than 90% donor T-cell chimerism at last follow-up. Not all disease manifestations responded equally well to HSCT: eczema, infections, and mollusca resolved quicker than food allergies or failure to thrive.CONCLUSIONS: HSCT is curative in most DOCK8-deficient patients, confirming this approach as the treatment of choice. HSCT using a reduced-toxicity regimen may offer the best chance for survival. (C) 2018 Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology

Published
2019

20. Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Author

Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, Gennery, A, Ferrua, Francesca, Galimberti, Stefania, Courteille, Virginie, Slatter, Mary Anne, Booth, Claire, Moshous, Despina, Neven, Benedicte, Blanche, Stephane, Laberko, Alexandra, Shcherbina, Anna, Balashov, Dmitry, Soncini, Elena, Porta, Fulvio, Al-Mousa, Hamoud, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Formankova, Renata, Bertrand, Yves, Lange, Andrzej, Smart, Joanne, Wolska-Kusnierz, Beata, Aquino, Victor M, Dvorak, Christopher C, Fasth, Anders, Fouyssac, Fanny, Heilmann, Carsten, Hoenig, Manfred, Schuetz, Catharina, Kelečić, Jadranka, Bredius, Robbert G M, Lankester, Arjan C, Lindemans, Caroline A, Suarez, Felipe, Sullivan, Kathleen E, Albert, Michael H, Kałwak, Krzysztof, Barlogis, Vincent, Bhatia, Monica, Bordon, Victoria, Czogala, Wojciech, Alonso, Laura, Dogu, Figen, Gozdzik, Jolanta, Ikinciogullari, Aydan, Kriván, Gergely, Ljungman, Per, Meyts, Isabelle, Mustillo, Peter, Smith, Angela R, Speckmann, Carsten, Sundin, Mikael, Keogh, Steven John, Shaw, Peter John, Boelens, Jaap Jan, Schulz, Ansgar S, Sedlacek, Petr, Veys, Paul, Mahlaoui, Nizar, Janda, Ales, Davies, E Graham, Fischer, Alain, Cowan, Morton J, Gennery, Andrew Richard, Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, Gennery, A, Ferrua, Francesca, Galimberti, Stefania, Courteille, Virginie, Slatter, Mary Anne, Booth, Claire, Moshous, Despina, Neven, Benedicte, Blanche, Stephane, Laberko, Alexandra, Shcherbina, Anna, Balashov, Dmitry, Soncini, Elena, Porta, Fulvio, Al-Mousa, Hamoud, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Formankova, Renata, Bertrand, Yves, Lange, Andrzej, Smart, Joanne, Wolska-Kusnierz, Beata, Aquino, Victor M, Dvorak, Christopher C, Fasth, Anders, Fouyssac, Fanny, Heilmann, Carsten, Hoenig, Manfred, Schuetz, Catharina, Kelečić, Jadranka, Bredius, Robbert G M, Lankester, Arjan C, Lindemans, Caroline A, Suarez, Felipe, Sullivan, Kathleen E, Albert, Michael H, Kałwak, Krzysztof, Barlogis, Vincent, Bhatia, Monica, Bordon, Victoria, Czogala, Wojciech, Alonso, Laura, Dogu, Figen, Gozdzik, Jolanta, Ikinciogullari, Aydan, Kriván, Gergely, Ljungman, Per, Meyts, Isabelle, Mustillo, Peter, Smith, Angela R, Speckmann, Carsten, Sundin, Mikael, Keogh, Steven John, Shaw, Peter John, Boelens, Jaap Jan, Schulz, Ansgar S, Sedlacek, Petr, Veys, Paul, Mahlaoui, Nizar, Janda, Ales, Davies, E Graham, Fischer, Alain, Cowan, Morton J, and Gennery, Andrew Richard

Abstract

Background: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). Objective: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. Methods: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. Results: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow–derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. Conclusion: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy.

Published
2019

23. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Author

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel A, Cypowyj S, Thumerelle C, Toulon A, Bustamante J, Tahuil N, SALHI, DALILA, Boiu S, Chopra C, Di Giovanni D, Bezrodnik L, Boutros J, Thomas C, Lacuesta G, Jannier S, Korganow AS, Paillard C, Boutboul, Bué M, Marie-Cardine A, Bayart S, Migaud M, Weiss, Karmochkine M, Garcia-Martinez JM, Stephan JL, Bensaid P, Jeannoel GP, Witte T, Baumann U, Harrer T, Navarrete C, ACOSTA HUGHES, BENJAMIN, Firinu, Pignata C, Picco P, Mendoza D, Lugo Reyes SO, Torres Lozano C, Ortega-Cisneros M, Cortina M, Mesdaghi M, Nabavi M, Español T, Martínez-Saavedra MT, Rezaei N, Zoghi S, Pac M, Barlogis V, Revon-Rivière G, Haimi-Cohen Y, Spiegel R, Miron D, Bouchaib J, Blancas-Galicia L, Toth B, Drexel B, Rohrlich PS, Lesens O, Hoernes M, Drewe E, Abinum M, Sawalle-Belohradsky J, Kindle G, Depner M, Milani L, Nikopensius T, Remm M, Talas UG, Tucker M, Willis M, Leonard S, Meuwissen H, Ferdman RM, CORBO UGULINO, WALLACE, Desai MM, Taur P, Badolato R, Soltesz B, Schnopp C, Jansson AF, Ayvaz D, Shabashova N, Chernyshova L, Bondarenko A, Moshous D, Neven B, Boubidi C, Ailal F, Giardino G, Del Giacco S, Bougnoux ME, Imai K, Okawa T, Mizoguchi Y, Ozaki Y, Takeuchi M, Hayakawa A, Lögering B, Reich K, Buhl T, Eyerich K, Schaller M, Arkwright PD, Gennery AR, Cant AJ, Warris A, Henriet S, Mekki N, Barbouche R, Ben Mustapha I, Bodemer, Polak M, Grimprel E, Burgel PR, Fischer A, Hermine O, Debré M, Kocacyk D, Dhalla F, Patel SY, Moens L, Haerynck F, Dullaers, Hoste L, Sanal O, Kilic SS, Roesler J, Lanternier F, Lortholary O, Fieschi C, Church JA, Roifman C, Yuenyongviwat A, Peterson P, Boisson-Dupuis S, Abel L, Marciano BE, Netea MG., Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel, A, Cypowyj, S, Thumerelle, C, Toulon, A, Bustamante, J, Tahuil, N, Salhi, Dalila, Boiu, S, Chopra, C, Di Giovanni, D, Bezrodnik, L, Boutros, J, Thomas, C, Lacuesta, G, Jannier, S, Korganow, A, Paillard, C, Boutboul, Bué, M, Marie-Cardine, A, Bayart, S, Migaud, M, Weiss, Karmochkine, M, Garcia-Martinez, Jm, Stephan, Jl, Bensaid, P, Jeannoel, Gp, Witte, T, Baumann, U, Harrer, T, Navarrete, C, ACOSTA HUGHES, Benjamin, Firinu, Pignata, C, Picco, P, Mendoza, D, Lugo Reyes, So, Torres Lozano, C, Ortega-Cisneros, M, Cortina, M, Mesdaghi, M, Nabavi, M, Español, T, Martínez-Saavedra, Mt, Rezaei, N, Zoghi, S, Pac, M, Barlogis, V, Revon-Rivière, G, Haimi-Cohen, Y, Spiegel, R, Miron, D, Bouchaib, J, Blancas-Galicia, L, Toth, B, Drexel, B, Rohrlich, P, Lesens, O, Hoernes, M, Drewe, E, Abinum, M, Sawalle-Belohradsky, J, Kindle, G, Depner, M, Milani, L, Nikopensius, T, Remm, M, Talas, Ug, Tucker, M, Willis, M, Leonard, S, Meuwissen, H, Ferdman, Rm, CORBO UGULINO, Wallace, Desai, Mm, Taur, P, Badolato, R, Soltesz, B, Schnopp, C, Jansson, Af, Ayvaz, D, Shabashova, N, Chernyshova, L, Bondarenko, A, Moshous, D, Neven, B, Boubidi, C, Ailal, F, Giardino, G, Del Giacco, S, Bougnoux, Me, Imai, K, Okawa, T, Mizoguchi, Y, Ozaki, Y, Takeuchi, M, Hayakawa, A, Lögering, B, Reich, K, Buhl, T, Eyerich, K, Schaller, M, Arkwright, Pd, Gennery, Ar, Cant, Aj, Warris, A, Henriet, S, Mekki, N, Barbouche, R, Ben Mustapha, I, Bodemer, Polak, M, Grimprel, E, Burgel, Pr, Fischer, A, Hermine, O, Debré, M, Kocacyk, D, Dhalla, F, Patel, Sy, Moens, L, Haerynck, F, Dullaers, Hoste, L, Sanal, O, Kilic, S, Roesler, J, Lanternier, F, Lortholary, O, Fieschi, C, Church, Ja, Roifman, C, Yuenyongviwat, A, Peterson, P, Boisson-Dupuis, S, Abel, L, Marciano, Be, and Netea, Mg.

Subjects
Male, 0301 basic medicine, Pediatrics, Clinical Trials and Observations, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, Biochemistry, Gastroenterology, Cohort Studies, STAT5 Transcription Factor, Medicine, Chronic mucocutaneous candidiasis, Child, Hematology, biology, Progressive multifocal leukoencephalopathy, Candidiasis, Chronic Mucocutaneous, Candidiasis, Orvostudományok, Middle Aged, Phenotype, STAT1 Transcription Factor, Staphylococcus aureus, Child, Preschool, Female, STAT3 Transcription Factor, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Aged, Genetic Predisposition to Disease, Humans, Infant, Young Adult, Genetic Association Studies, Mutation, Immunology, Cell Biology, Chronic Mucocutaneous, Klinikai orvostudományok, Herpesviridae, Mycobacterium tuberculosis, 03 medical and health sciences, Internal medicine, Journal Article, ddc:610, Preschool, Key Points AD STAT1 GOF is the most common genetic cause of inherited CMC and is not restricted to a specific age or ethnic group. STAT1 GOF underlies a variety of infectious and autoimmune features, as well as carcinomas and aneurysms associated with a poor outcome, Type 1 diabetes, Cytopenia, business.industry, medicine.disease, biology.organism_classification, 030104 developmental biology, business
Abstract

Contains fulltext : 172671.pdf (Publisher’s version ) (Closed access) Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guerin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.

Published
2016
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24. Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB.

Author

Mollin, M., Beaumel, S., Vigne, B., Brault, J., Roux‐Buisson, N., Rendu, J., Barlogis, V., Catho, G., Dumeril, C., Fouyssac, F., Monnier, D., Gandemer, V., Revest, M., Brion, J.‐P., Bost‐Bru, C., Jeziorski, E., Eitenschenck, L., Jarrasse, C., Drillon Haus, S., and Houachée‐Chardin, M.

Subjects
CHRONIC granulomatous disease, NADPH oxidase, NICOTINAMIDE adenine dinucleotide phosphate, MISSENSE mutation, PROMOTERS (Genetics)
Abstract

Summary: Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X‐linked CGD (X91‐CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X910, X91− or X91+), according to NADPH oxidase 2 (NOX2) expression and NADPH oxidase activity in neutrophils. Eleven mutations were novel (nine X910‐CGD and two X91−‐CGD). One X910‐CGD was due to a new and extremely rare double missense mutation Thr208Arg‐Thr503Ile. We investigated the pathological impact of each single mutation using stable transfection of each mutated cDNA in the NOX2 knock‐out PLB‐985 cell line. Both mutations leading to X91−‐CGD were also novel; one deletion, c.‐67delT, was localized in the promoter region of CYBB; the second c.253‐1879A>G mutation activates a splicing donor site, which unveils a cryptic acceptor site leading to the inclusion of a 124‐nucleotide pseudo‐exon between exons 3 and 4 and responsible for the partial loss of NOX2 expression. Both X91−‐CGD mutations were characterized by a low cytochrome b558 expression and a faint NADPH oxidase activity. The functional impact of new missense mutations is discussed in the context of a new three‐dimensional model of the dehydrogenase domain of NOX2. Our study demonstrates that low NADPH oxidase activity found in both X91−‐CGD patients correlates with mild clinical forms of CGD, whereas X910‐CGD and X91+‐CGD cases remain the most clinically severe forms. [ABSTRACT FROM AUTHOR]

Published
2021
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26. UNSMAKING PRIMARY IMMUNE DEFICIENCIES IN EARLY-ONSET EVANS SYNDROME ă USING IMMUNOPHENOTYPING AND NGS: TOWARDS A CLINICAL AND GENETIC ă CLASSIFICATION

Author

Rieux-Laucat, F., Aladjidi, N., Picard, C., Fernandes, H., Bertrand, Yves, Barlogis, V., Pasquet, M., Levy, E., Mazingue, F., Guitton, C., Magerus, A., Leblanc, T., Leverger, G., Fischer, A., Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Immunologie de Marseille - Luminy (CIML), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée), Etablissement Français du Sang, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Santé Publique et maladies Chroniques : Qualité de vie Concepts, Usages et Limites, Déterminants (SPMC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Physique des Lasers (LPL), Université Paris 13 (UP13)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre d'Immunologie de Marseille - Luminy ( CIML ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Etablissement Français du Sang - Alpes-Méditerranée ( EFS - Alpes-Méditerranée ), Anthropologie bio-culturelle, Droit, Ethique et Santé ( ADES ), Aix Marseille Université ( AMU ) -EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique ( CNRS ), Santé Publique et maladies Chroniques : Qualité de vie Concepts, Usages et Limites, Déterminants ( SPMC ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ), Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Jet Propulsion Laboratory ( JPL ), NASA-California Institute of Technology ( CALTECH ), Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Laboratoire de Physique des Lasers ( LPL ), Université Paris 13 ( UP13 ) -Université Sorbonne Paris Cité ( USPC ) -Institut Galilée-Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], and Université Sorbonne Paris Cité (USPC)-Institut Galilée-Université Paris 13 (UP13)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[ SHS.PSY ] Humanities and Social Sciences/Psychology, [ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [ SHS.ECO ] Humanities and Social Sciences/Economies and finances, [SHS.PSY]Humanities and Social Sciences/Psychology, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SHS.ECO]Humanities and Social Sciences/Economics and Finance, Quality
Abstract

21st Congress of the European-Hematology-Association, Copenhagen, ă DENMARK, JUN 09-12, 2016; International audience; no abstract

Published
2016

28. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

Author

Elkaim, E, Neven, B, Bruneau, J, Mitsui-Sekinaka, K, Stanislas, A, Heurtier, L, Lucas, CL, Matthews, H, Deau, MC, Sharapova, S, Curtis, J, Reichenbach, J, Glastre, C, Parry, DA, Arumugakani, G, McDermott, E, Kilic, SS, Yamashita, M, Moshous, D, Lamrini, H, Otremba, B, Gennery, A, Coulter, T, Quinti, I, Stephan, JL, Lougaris, V, Brodszki, N, Barlogis, V, Asano, T, Galicier, L, Boutboul, D, Nonoyama, S, Cant, A, Imai, K, Picard, C, Nejentsev, S, Molina, TJ, Lenardo, M, Savic, S, Cavazzana, M, Fischer, A, Durandy, A, and Kracker, S

Subjects
Adult, Male, Adolescent, Genotype, p110δ, Class I Phosphatidylinositol 3-Kinases, activated phosphoinositide 3-kinase δ syndrome, Biopsy, Immunology, CD8-Positive T-Lymphocytes, primary immunodeficiency, APDS2, combined immune deficiency, Cohort Studies, Young Adult, Gene Frequency, T-Lymphocyte Subsets, lymphadenopathy, P110δ-activating mutations causing senescent T cells, Immunology and Allergy, Humans, hyper-IgM, Child, Alleles, and immunodeficiency, Primary immunodeficiency, phosphoinositide 3-kinase, Immunologic Deficiency Syndromes, p85α, adenopathy, Middle Aged, antibody deficiency, Phenotype, Activated phosphoinositide 3-kinase δ syndrome, Adenopathy, And immunodeficiency, Antibody deficiency, Hyper-IgM, Immunodeficiency, Lymphadenopathy, P110δ, P85α, Phosphoinositide 3-kinase, Child, Preschool, Mutation, p110δ-activating mutations causing senescent T cells, Female, RNA Splice Sites, immunodeficiency
Abstract

Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]–R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85α, p55α, and p50α) of class IA phosphoinositide 3-kinases. Objectives We sought to review the clinical, immunologic, and histopathologic phenotypes of APDS2 in a genetically defined international patient cohort. Methods The medical and biological records of 36 patients with genetically diagnosed APDS2 were collected and reviewed. Results Mutations within splice acceptor and donor sites of exon 11 of the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract infections (100%), pneumonitis (71%), and chronic lymphoproliferation (89%, including adenopathy [75%], splenomegaly [43%], and upper respiratory tract lymphoid hyperplasia [48%]) were the most common features. Growth retardation was frequently noticed (45%). Other complications were mild neurodevelopmental delay (31%); malignant diseases (28%), most of them being B-cell lymphomas; autoimmunity (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell lymphopenia (88%) associated with an increased frequency of transitional B cells (93%), and decreased numbers of naive CD4 and naive CD8 cells but increased numbers of CD8 effector/memory T cells were predominant immunologic features. The majority of patients (89%) received immunoglobulin replacement; 3 patients were treated with rituximab, and 6 were treated with rapamycin initiated after diagnosis of APDS2. Five patients died from APDS2-related complications. Conclusion APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase δ inhibitors are possible treatment options.

Published
2015

29. Maintenance chemotherapy in children with ALL exerts metronomic-like thrombospondin-1 associated anti-endothelial effect

Author

Andre, N., Cointe, S., Barlogis, V., Arnaud, L., Lacroix, R., Eddy Pasquier, Dignat-George, F., Michel, G., Sabatier, F., Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Physiopathologie de l'Endothelium, Vascular research center of Marseille (VRCM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), and HAL AMU, Administrateur

Subjects
immune system, angiogenesis, [SDV.CAN] Life Sciences [q-bio]/Cancer, maintenance therapy, metronomic chemotherapy, leukemia, [SDV.CAN]Life Sciences [q-bio]/Cancer
Abstract

International audience; Maintenance chemotherapy is an important part of the treatment of ALL in children. It relies on the long-term oral administration of daily low-dose mercaptopurin and weekly low-dose methotrexate. Although it has been used in the clinic for decades, its mechanisms of action remain unclear. Here, we investigated different angiogenic and immune biomarkers to gain insights into the mechanisms of action of maintenance therapy in children with ALL. We thus monitored circulating endothelial cells (CEC), endothelial progenitor cells (EPC) and endothelial microparticles (EMP), pro-angiogenic factors (VEGF, VEGFR-1 and Ang-2), anti-angiogenic factor thrombospondin-1 (THBS1) and regulatory T lymphocytes (Treg) in 47 children with ALL during the maintenance phase of their treatment (at treatment initiation and after 6, 12 and 18 months). We observed a statistically significant decrease in EPC and EMP counts throughout the maintenance phase associated with a significant increase in THBS1 levels. No significant change was detected in other angiogenic markers or in Treg numbers. The results presented here indicate that maintenance therapy in children with ALL exerts its antitumor activity at least in part through anti-angiogenic effects, similar to those induced by metronomic chemotherapy. Larger studies are now warranted to validate these findings and determine their clinical implications.

Published
2015
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32. Treatment with Hizentra in patients with primary and secondary immunodeficiencies: a real-life, non-interventional trial

Author

Viallard, J. F., primary, Agape, P., additional, Barlogis, V., additional, Cozon, G., additional, Faure, C., additional, Fouyssac, F., additional, Gaud, C., additional, Gourin, M. P., additional, Hamidou, M., additional, Hoarau, C., additional, Husseini, F., additional, Ojeda-Uribe, M., additional, Pavic, M., additional, Pellier, I., additional, Perlat, A., additional, Schleinitz, N., additional, and Slama, B., additional

Published
2016
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33. Late thyroid complications in survivors of childhood acute leukemia. An L.E.A. study

Author

Oudin, C., primary, Auquier, P., additional, Bertrand, Y., additional, Chastagner, P., additional, Kanold, J., additional, Poiree, M., additional, Thouvenin, S., additional, Ducassou, S., additional, Plantaz, D., additional, Tabone, M.-D., additional, Dalle, J.-H., additional, Gandemer, V., additional, Lutz, P., additional, Sirvent, A., additional, Villes, V., additional, Barlogis, V., additional, Baruchel, A., additional, Leverger, G., additional, Berbis, J., additional, and Michel, G., additional

Published
2016
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34. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.F., Boralevi, F., González-Enseñat, M.A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Yves, Francannet, C., Didonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A.B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S.C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C., UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.F., Boralevi, F., González-Enseñat, M.A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Yves, Francannet, C., Didonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A.B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S.C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Abstract

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Published
2015

35. MANAGEMENT OF DOCK8 DEFICIENCY BY HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT)

Author

Aydin, S., Freeman, A. F., Sanal, O., Al-Mousa, H., Matthes-Martin, S., Cuellar-Rodriguez, J., Hickstein, D. D., Tavil, B., Azik, F. M., Bittner, T. C., Bredius, R. G., Ayvaz, D., Kuskonmaz, B., Hoenig, M., Schulz, A., Picard, C., Barlogis, V., Gennery, A., Ifversen, M., Montfrans, J. M., Kuijpers, T. W., Dueckers, G., Al-Herz, W., Pai, S. Y., Geha, R. S., Notheis, G., Schwarze, C. P., Schuster, F., Gathmann, B., Grimbacher, B., Gaspar, B., Belohradsky, B. H., Ochs, H., Ellen Renner, Chatila, T., Engelhardt, K. R., and Albert, M. H.

Published
2012

37. Lymphocyte subset reconstitution after unrelated cord blood or bone marrow transplantation in children

Author

Rénard, C., Barlogis, V., Mialou, V., Galambrun, C., Bernoux, D., Goutagny, Mp, Glasman, L., Loundou, Ad, Poitevin-Later, F., Dignat-George, Francoise, Dubois, V., Picard, C., Chabannon, C., Bertrand, Yves, Michel, G., Service de Pediatrie Debrousse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Laboratory of Biochemistry, Hopital Neurologique, Microbiologie Fondamentale et Pathogénicité (MFP), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Université Bordeaux Segalen - Bordeaux 2, and Microbiologie cellulaire et moléculaire et pathogénicité (MCMP)

Subjects
Male, MESH: Lymphocyte Count, Adolescent, Opportunistic Infections, MESH: B-Lymphocytes/immunology, T-Lymphocyte Subsets, MESH: T-Lymphocyte Subsets/immunology, MESH: Hematologic Diseases/therapy, MESH: Lymphocyte Subsets/immunology, Humans, MESH: Female Hematologic Diseases/immunology, Lymphocyte Count, MESH: Male Opportunistic Infections/immunology, MESH: Humans Infant, Child, Bone Marrow Transplantation, MESH: Treatment Outcome, MESH: Adolescent, B-Lymphocytes, [SDV.GEN]Life Sciences [q-bio]/Genetics, Infant, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, MESH: Child Child, Preschool, Hematologic Diseases, Lymphocyte Subsets, Killer Cells, Natural, Treatment Outcome, MESH: Killer Cells, Natural/immunology, MESH: Cord Blood Stem Cell Transplantation/methods, Child, Preschool, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, MESH: Bone Marrow Transplantation/methods, Cord Blood Stem Cell Transplantation
Abstract

International audience; We report the post-transplant lymphocyte subset recovery of 226 children treated with Unrelated Cord Blood transplant (UCBT) (n = 112) or Unrelated Bone Marrow Transplant (UBMT) (n = 114) for malignant or non-malignant diseases. Absolute numbers of natural killer (NK), B and T cells were monitored by flow cytometry up to 5 years post-transplant. Immunological endpoints were: time to achieve a CD3(+) cell count > 0*5 and 1*5 × 10⁹/l, CD4(+) > 0*2 and 0*5 × 10⁹/l, CD8(+) > 0*25 ×10⁹/l, CD19(+) > 0*2 × 10⁹/l, NK > 0*1 × 10⁹/l. These endpoints were analysed through the use of cumulative incidence curves in the context of competing risks. CD8(+) T cell recovery was delayed after UCBT with a median time to reach CD8(+) T cells > 0*25 × 10⁹/l of 7*7 months whereas it was 2*8 months in UBMT (P < 0*001). B cell recovery was better in UCBT, with a median time to reach CD19(+) cells > 0*2 × 10⁹/l of 3*2 months in UCBT and 6*4 months in UBMT (P = 0*03). Median time for CD4(+) T cell and NK cell recovery was similar in UCBT and UBMT. CD4(+) T cells recovery was negatively correlated to age (better reconstitution in younger patients, P = 0*002). CD8(+) T cells recovery was shorter in recipients with a positive cytomegalovirus serology (P =0*001).

Published
2011
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38. CO-79 – Syndrome métabolique chez les adultes greffés pour leucémie dans l'enfance

Author

Oudin, C., primary, Auquier, P., additional, Bertrand, Y., additional, Contet, A., additional, Kanold, J., additional, Sirvent, N., additional, Thouvenin, S., additional, Tabone, M.D., additional, Lutz, P., additional, Ducassou, S., additional, Plantaz, D., additional, Dalle, J.H., additional, Gandemer, V., additional, Beliard, S., additional, Vercasson, C., additional, Barlogis, V., additional, Baruchel, A., additional, Leverger, G., additional, and Michel, G., additional

Published
2015
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39. Late cardiomyopathy in childhood acute myeloid leukemia survivors: a study from the L.E.A. program

Author

Barlogis, V., primary, Auquier, P., additional, Bertrand, Y., additional, Chastagner, P., additional, Plantaz, D., additional, Poiree, M., additional, Kanold, J., additional, Berbis, J., additional, Oudin, C., additional, Vercasson, C., additional, Allouche, M., additional, Tabone, M.-D., additional, Thouvenin-Doulet, S., additional, Saumet, L., additional, Chambost, H., additional, Baruchel, A., additional, Leverger, G., additional, and Michel, G., additional

Published
2015
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40. Prevention of Infections During Primary Immunodeficiency

Author

Aguilar, C., primary, Malphettes, M., additional, Donadieu, J., additional, Chandesris, O., additional, Coignard-Biehler, H., additional, Catherinot, E., additional, Pellier, I., additional, Stephan, J.-L., additional, Le Moing, V., additional, Barlogis, V., additional, Suarez, F., additional, Gerart, S., additional, Lanternier, F., additional, Jaccard, A., additional, Consigny, P.-H., additional, Moulin, F., additional, Launay, O., additional, Lecuit, M., additional, Hermine, O., additional, Oksenhendler, E., additional, Picard, C., additional, Blanche, S., additional, Fischer, A., additional, Mahlaoui, N., additional, and Lortholary, O., additional

Published
2014
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42. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Author

Piard, J., primary, Aral, B., additional, Vabres, P., additional, Holder‐Espinasse, M., additional, Mégarbané, A., additional, Gauthier, S., additional, Capra, V., additional, Pierquin, G., additional, Callier, P., additional, Baumann, C., additional, Pasquier, L., additional, Baujat, G., additional, Martorell, L., additional, Rodriguez, A., additional, Brady, A. F., additional, Boralevi, F., additional, González‐Enseñat, M. A., additional, Rio, M., additional, Bodemer, C., additional, Philip, N., additional, Cordier, M.‐P., additional, Goldenberg, A., additional, Demeer, B., additional, Wright, M., additional, Blair, E., additional, Puzenat, E., additional, Parent, P., additional, Sznajer, Y., additional, Francannet, C., additional, DiDonato, N., additional, Boute, O., additional, Barlogis, V., additional, Moldovan, O., additional, Bessis, D., additional, Coubes, C., additional, Tardieu, M., additional, Cormier‐Daire, V., additional, Sousa, A. B., additional, Franques, J., additional, Toutain, A., additional, Tajir, M., additional, Elalaoui, S. C., additional, Geneviève, D., additional, Thevenon, J., additional, Courcet, J.‐B., additional, Rivière, J.‐B., additional, Collet, C., additional, Gigot, N., additional, Faivre, L., additional, and Thauvin‐Robinet, C., additional

Published
2014
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43. Symptomatic osteonecrosis in childhood leukemia survivors: prevalence, risk factors and impact on quality of life in adulthood

Author

Girard, P., primary, Auquier, P., additional, Barlogis, V., additional, Contet, A., additional, Poiree, M., additional, Demeocq, F., additional, Berbis, J., additional, Herrmann, I., additional, Villes, V., additional, Sirvent, N., additional, Kanold, J., additional, Chastagner, P., additional, Chambost, H., additional, Plantaz, D., additional, and Michel, G., additional

Published
2013
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45. Multi-Institutional Experience of HSCT for DOCK8 Deficiency

Author

Albert, M.H., primary, Aydin, S., additional, Matthes-Martin, S., additional, Hoenig, M., additional, Schulz, A., additional, Steinmann, S., additional, Barlogis, V., additional, Gennery, A., additional, Ifversen, M., additional, van Montfrans, J., additional, Kuijpers, T., additional, Bredius, R., additional, Vermont, C., additional, Bittner, T., additional, Notheis, G., additional, Belohradsky, B.H., additional, Sawalle-Belohradsky, J., additional, Heinz, V., additional, Gathmann, B., additional, Ochs, H.D., additional, Renner, E.D., additional, and Gaspar, B., additional

Published
2012
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47. Complications and treatment of patients with -thalassemia in France: results of the National Registry

Author

Thuret, I., primary, Pondarre, C., additional, Loundou, A., additional, Steschenko, D., additional, Girot, R., additional, Bachir, D., additional, Rose, C., additional, Barlogis, V., additional, Donadieu, J., additional, de Montalembert, M., additional, Hagege, I., additional, Pegourie, B., additional, Berger, C., additional, Micheau, M., additional, Bernaudin, F., additional, Leblanc, T., additional, Lutz, L., additional, Galacteros, F., additional, Simeoni, M. C., additional, and Badens, C., additional

Published
2009
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50. Langerhans Cell Histiocytosis with Hematological Dysfunction, Refractory to Standard Therapy Could Be Cured by an Association of 2-CdA and Ara-C: Concordant Results from the Observational Survey of Treated Patients and from a Nation Wide Registry.

Author

Donadieu, Jean, primary, Thomas, C., primary, Barlogis, V., primary, Galambrun, C., primary, Robert, A., primary, Gandemer, V., primary, Bertrand, Y., primary, Munzer, M., primary, Landman-Parker, J., primary, Ouache-Chardin, M., primary, Perel, Y., primary, Chastagner, P., primary, Fischer, A., primary, and Bernard, F., primary

Published
2007
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