ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD
Published in Journal of allergy and clinical immunology (01.12.2009)
Published in Journal of allergy and clinical immunology (01.12.2009)
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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Walter, Jolan E., MD, PhD, Giliani, Silvia, PhD, Gennery, Andrew R., MD, Al-Herz, Waleed, MD, Haddad, Elie, MD, PhD, LeDeist, Francoise, MD, PhD, Bleesing, Jack H., MD, PhD, Henderson, Lauren A., MD, Pai, Sung-Yun, MD, Nelson, Robert P., MD, El-Ghoneimy, Dalia H., MD, El-Feky, Reem A., MD, Reda, Shereen M., MD, PhD, Hossny, Elham, MD, PhD, Soler-Palacin, Pere, MD, Fuleihan, Ramsay L., MD, Patel, Niraj C., MD, Massaad, Michel J., PhD, Geha, Raif S., MD, Puck, Jennifer M., MD, Palma, Paolo, MD, Cancrini, Caterina, MD, Chen, Karin, MD, Vihinen, Mauno, PhD, Alt, Frederick W., PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease
Labrosse, Roxane, Abou-Diab, Jane, Blincoe, Annaliesse, Cros, Guilhem, Luu, Thuy Mai, Deslandres, Colette, Dirks, Martha, Fazilleau, Laura, Ovetchkine, Philippe, Teira, Pierre, LeDeist, Françoise, Fernandez, Isabel, Touzot, Fabien, Decaluwe, Helene, Halac, Ugur, Haddad, Elie
Published in Frontiers in immunology (26.09.2017)
Published in Frontiers in immunology (26.09.2017)
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Clinical features of cytotoxic CD8+ T-lymphocyte deficiency in chronic rhinosinusitis patients: a demographic and functional study
Gabra, Nathalie, Alromaih, Saud, Endam, Leandra Mfuna, Brito, Rose Marie, Larivière, Françoise, Al-Mot, Sawsan, LeDeist, Françoise, Desrosiers, Martin
Published in International forum of allergy & rhinology (01.06.2014)
Published in International forum of allergy & rhinology (01.06.2014)
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STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
Picard, Capucine, McCarl, Christie-Ann, Papolos, Alexander, Khalil, Sara, Lüthy, Kevin, Hivroz, Claire, LeDeist, Francoise, Rieux-Laucat, Frédéric, Rechavi, Gideon, Rao, Anjana, Fischer, Alain, Feske, Stefan
Published in The New England journal of medicine (07.05.2009)
Published in The New England journal of medicine (07.05.2009)
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Rituximab therapy for childhood Evans syndrome
Bader-Meunier, Brigitte, Aladjidi, Nathalie, Bellmann, Francoise, Monpoux, Fabrice, Nelken, Brigitte, Robert, Alain, Armari-Alla, Corinne, Picard, Capucine, Ledeist, Francoise, Munzer, Martine, Yacouben, Karima, Bertrand, Yves, Pariente, Antoine, Chausse, Arnaud, Perel, Yves, Leverger, Guy
Published in Haematologica (Roma) (01.12.2007)
Published in Haematologica (Roma) (01.12.2007)
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STIM1 Mutation Associated with a Syndrome of Immunodeficiency and AutoimmunityBrief Report
Picard, Capucine, McCarl, Christie-Ann, Papolos, Alexander, Khalil, Sara, Lüthy, Kevin, Hivroz, Claire, LeDeist, Francoise, Rieux-Laucat, Frédéric, Rechavi, Gideon, Rao, Anjana, Fischer, Alain, Feske, Stefan
Published in The New England journal of medicine (07.05.2009)
Published in The New England journal of medicine (07.05.2009)
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Journal Article
ORAI1 deficiency and lack of store-operated Ca 2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
McCarl, Christie-Ann, Picard, Capucine, Khalil, Sara, Kawasaki, Takumi, Röther, Jens, Papolos, Alexander, Kutok, Jeffery, Hivroz, Claire, LeDeist, Francoise, Plogmann, Katrin, Ehl, Stephan, Notheis, Gundula, Albert, Michael H., Belohradsky, Bernd H., Kirschner, Janbernd, Rao, Anjana, Fischer, Alain, Feske, Stefan
Published in Journal of allergy and clinical immunology (01.12.2009)
Published in Journal of allergy and clinical immunology (01.12.2009)
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Autoimmune Hemolytic Anemia (AIHA) in Children: A French Observational Study of 171 Patients for the French Society of Pediatric Hematology and Immunology (SHIP)
Aladjidi, Nathalie, Pariente, Antoine, Leblanc, Thierry, Meunier, Brigitte Bader, Bertrand, Yves, Michel, Gerard, Ledeist, Francoise, Colin, Yves, Chene, Genevieve, Nelken, Brigitte, Leverger, Guy, Perel, Yves
Published in Blood (16.11.2005)
Published in Blood (16.11.2005)
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706. Retrovirus integration site distribution in long-term gene-corrected hematopoiesis of the SCID-X1 gene therapy clinical trial
Schmidt, Manfred, Hu, Jingjong, Hacein-bey-abina, Salima, Fischer, Alain, Wissler, Manuela, Prinz, Claudia, Glimm, Hanno, Schwarzwaelder, Kerstin, Ledeist, Francoise, Garrigue, Alexandrine, Andre-schmutz, Isabelle, Cavazzana-calvo, Marina, Kalle, Christof Von
Published in Molecular therapy (01.05.2004)
Published in Molecular therapy (01.05.2004)
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Dyserythropoiesis associated with a Fas‐deficient condition in childhood
BADER-MEUNIER, B, RIEUX-LAUCAT, F, CROISILLE, L, YVART, J, MIELOT, F, DOMMERGUES, J. P, LEDEIST, F, TCHERNIA, G
Published in British journal of haematology (01.02.2000)
Published in British journal of haematology (01.02.2000)
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Pearson's marrow-pancreas syndrome : a multisystem mitochondrial disorder in infancy
RÖTIG, A, CORMIER, V, MUNNICH, A, BLANCHE, S, BONNEFONT, J.-P, LEDEIST, F, ROMERO, N, SCHMITZ, J, RUSTIN, P, FISCHER, A, SAUDUBRAY, J.-M
Published in The Journal of clinical investigation (01.11.1990)
Published in The Journal of clinical investigation (01.11.1990)
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Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies
Turleau, C, Cabanis, M O, Girault, D, Ledeist, F, Mettey, R, Puissant, H, Prieur, M, de Grouchy, J
Published in American journal of medical genetics (01.03.1989)
Published in American journal of medical genetics (01.03.1989)
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