Patrick Nitschké

Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Luyan Liu, Satoshi Okada, Xiao‐Fei Kong et al. · The Journal of Experimental Medicine · 2011 · 788 citations · Full text

Microbial Pathogens, Immunodeficiencies, Innate Immune System +21

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Nadia Jeremiah, Bénédicte Neven, Matteo Gentili et al. · Journal of Clinical Investigation · 2014 · 535 citations · Full text

Innate Immune System, Immunology, Immune Regulation +24

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere et al. · Nature Genetics · 2012 · 517 citations · Full text

Developmental Biology, Hyperpolarization (Biology), Ion Channels +5

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 488 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +9

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Marjorie Côte, Mickaël Ménager, Agathe Burgess et al. · Journal of Clinical Investigation · 2009 · 346 citations · Full text

Immunology, Pathology, Cell Death +18