Alain Fischer

Clinical spectrum of X-linked hyper-IgM syndrome

Jacov Levy, Teresa Espanol-Boren, Carolin Thomas et al. · The Journal of Pediatrics · 1997 · 655 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +6

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Élodie Pastural, Franck J. Barrat, Rémi Dufourcq-Lagelouse et al. · Nature Genetics · 1997 · 456 citations

Myosin-va Gene, Genetic Disorder, Genetics +8

Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: A retrospective survey of 31 patients

Pierre Quartier, Marianne Debré, J. de Blic et al. · The Journal of Pediatrics · 1999 · 308 citations

Immunohematology, Autoimmune Disease, Pediatric Hematology +12

Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

Troy R. Torgerson, Avriel Linane, Nicolette Moes et al. · Gastroenterology · 2007 · 264 citations · Full text

Food Intolerance, Food Allergy, Autoimmune Disease +15

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Emmanuel Martin, Noé Palmic, Sylvia Sanquer et al. · Nature · 2014 · 244 citations · Full text

Central Role, Autoimmune Disease, Lymphocyte Development +10