Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
By Luyan Liu, S. Okada, X. Kong, A. Kreins, Sophie Cypowyj, A. Abhyankar, J. Toubiana, Yuval Itan, Magali Audry, P. Nitschké and 56 more. Journal of Experimental Medicine, 2011
784 citations recorded by the source corpus.
Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Subfields: Epidemiology, Immunology, Pathology and Forensic Medicine
View Paper: https://www.semanticscholar.org/paper/8aaf66a374637fbffb75bc4d4d248f2f7c2e09e2
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Citations in the corpus
- Hidden Killers: Human Fungal Infections (2012, neutral): “…as occurs in hyperimmu-noglobulin E syndrome, which results from mutations in the gene ( STAT3 ) that encodes the signal transducer and activator of transcription 3 (STAT3) protein ( 52 ), or in autosomal dominant chronic mucocutaneouscandidiasis,causedbymu-tationsinthe STAT1 gene ( 53 , 54 ) (Fig.”
- IL-6 in inflammation, autoimmunity and cancer (2020, background): “Of note is that both STAT3 LOF and STAT1 gain-of-function (GOF) mutations in patients show defects in T h 17 cell differentiation (179, 180).”