O Marie

Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

Jérôme Feldmann, Isabelle Callebaut, Graça Raposo et al. · Cell · 2003 · 927 citations · Full text

Medicine, Cell Biology, Molecular Genetics +5

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Anne Puel, Rainer Döffinger, Angels Natividad et al. · The Journal of Experimental Medicine · 2010 · 721 citations · Full text

Life Sciences, Dermatology, Immunology +17

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

Julie Toubiana, Satoshi Okada, Julia Hiller et al. · Blood · 2016 · 567 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous et al. · Blood · 2010 · 366 citations · Full text

Life Sciences, Genetics, Hematology +8

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Alain Fischer, Johan Provot, Jean‐Philippe Jaïs et al. · Journal of Allergy and Clinical Immunology · 2017 · 317 citations

Life Sciences, Immunology, Internal Medicine +11