Two novel gain-of-function mutations of stat1 responsible for chronic mucocutaneous candidiasis disease: Impaired production of il-17a and il-22, and the presence of anti-il-17f autoantibody

Journal of Immunology

Volumn 193, Issue 10, 2014, Pages 4880-4887

  Yamazaki, Yasuhiro ^a   Yamada, Masafumi ^a   Kawai, Toshinao ^b   Morio, Tomohiro ^c   Onodera, Masafumi ^b   Ueki, Masahiro ^a   Watanabe, Nobuyuki ^b   Takada, Hidetoshi ^d   Takezaki, Shunichiro ^a   Chida, Natsuko ^a,e   Kobayashi, Ichiro ^a   Ariga, Tadashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

^e HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOKINE ANTIBODY; GLUTAMIC ACID; GLUTAMINE; INTERLEUKIN 17; INTERLEUKIN 17F; INTERLEUKIN 17F AUTOANTIBODY; INTERLEUKIN 22; LYSINE; STAT1 PROTEIN; UNCLASSIFIED DRUG; AUTOANTIBODY; IL17A PROTEIN, HUMAN; IL17F PROTEIN, HUMAN; INTERLEUKIN DERIVATIVE; INTERLEUKIN-22; STAT1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CANDIDA; CD4+ T LYMPHOCYTE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOKINE PRODUCTION; ESOPHAGUS CANDIDIASIS; FEMALE; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; HUMAN; HUMAN CELL; JAPANESE (PEOPLE); MALE; MUCOCUTANEOUS CANDIDIASIS; MUTANT; NONHUMAN; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; PROTEIN DEPHOSPHORYLATION; PROTEIN PHOSPHORYLATION; STAT1 GENE; TH17 CELL; THRUSH; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; ANTAGONISTS AND INHIBITORS; BLOOD; CASE REPORT; DEFICIENCY; EXON; GENE EXPRESSION REGULATION; GENETICS; HELA CELL LINE; IMMUNOLOGY; MOLECULAR GENETICS; MUTATION; PATHOGENICITY; PATHOLOGY; PHOSPHORYLATION; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; AUTOANTIBODIES; CANDIDA; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD, PRESCHOOL; EXONS; FEMALE; GENE EXPRESSION REGULATION; HELA CELLS; HUMANS; INTERLEUKIN-17; INTERLEUKINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLATION; SIGNAL TRANSDUCTION; STAT1 TRANSCRIPTION FACTOR;

EID: 84910153914     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1401467     Document Type: Article

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