Patrick Revy

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection

Emmanuelle Jouanguy, Frédéric Altare, Salma Lamhamedi et al. · New England Journal of Medicine · 1996 · 875 citations · Full text

Immunodeficiencies, Tuberculosis Prevention, Immunology +24

Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

Dietke Buck, Laurent Malivert, Régina de Chasseval et al. · Cell · 2006 · 697 citations · Full text

Primary Immunodeficiency, Is Mutated, Medicine +10

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

Stéphanie Rigaud, Marie‐Claude Fondanèche, Nathalie Lambert et al. · Nature · 2006 · 696 citations

Primary Immunodeficiency, Autoimmune Disease, Immunology +5

Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

Kohsuke Imai, Geir Slupphaug, Wen-I Lee et al. · Nature Immunology · 2003 · 621 citations

Glycoproteomics, Immunogenetics, Genome Instability +10