Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Liu, L; Okada, S; Kong, XF; Kreins, AY; Cypowyj, S; Abhyankar, A; Toubiana, J; Itan, Y; Audry, M; Nitschke, P; Masson, C; Toth, B; Flatot, J; Migaud, M; Chrabieh, M; Kochetkov, T; Bolze, A; Borghesi, A; Toulon, A; Hiller, J; Eyerich, S; Eyerich, K; Gulácsy, V; Chernyshova, L; Chernyshov, V; Bondarenko, A; María Cortés Grimaldo, R; Blancas-Galicia, L; Madrigal Beas, IM; Roesler, J; Magdorf, K; Engelhard, D; Thumerelle, C; Burgel, PR; Hoernes, M; Drexel, B; Seger, R; Kusuma, T; Jansson, AF; Sawall...    »
 
Titel:
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 
Abstract:
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-?. Other loss-of-...    »
 
Zeitschriftentitel:
J Exp Med 
Jahr:
2011 
Band / Volume:
208 
Heft / Issue:
Seitenangaben Beitrag:
1635-48 
Sprache:
eng 
Print-ISSN:
0022-1007 
TUM Einrichtung:
r Molekulare Allergologie und Umweltforschung; r Dermatologie und Allergologie