Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

Journal of Allergy and Clinical Immunology

Volumn 131, Issue 6, 2013, Pages

  Uzel, Gulbu ^a   Sampaio, Elizabeth P ^a   Lawrence, Monica G ^a   Hsu, Amy P ^a   Hackett, Mary ^b   Dorsey, Morna J ^c   Noel, Richard J ^d   Verbsky, James W ^d   Freeman, Alexandra F ^a   Janssen, Erin ^e   Bonilla, Francisco A ^e   Pechacek, Joseph ^a   Chandrasekaran, Prabha ^a   Browne, Sarah K ^a   Agharahimi, Anahita ^a,f   Gharib, Ahmed M ^g   Mannurita, Sara C ^h   Yim, Jae Joon ⁱ   Gambineri, Eleonora ^h   Torgerson, Troy ^b   Tran, Dat Q ^j   Milner, Joshua D ^a   Holland, Steven M ^a   more..

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF SOUTH FLORIDA   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f SAIC FREDERICK INC   (United States)

^g NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ Seoul National University   (South Korea)

^j UNIVERSITY OF TEXAS   (United States)

more..

Author keywords

aneurysms; chronic mucocutaneous candidiasis; forkhead box protein 3; immune dysregulation polyendocrinopathy enteropathy X linked; regulatory T cell; Signal transducer and activator of transcription 1

Indexed keywords

CD4 ANTIGEN; GAMMA INTERFERON; INTERLEUKIN 17; INTERLEUKIN 21; INTERLEUKIN 6; STAT1 PROTEIN; STAT5 PROTEIN;

ADOLESCENT; ARTICLE; AUTOIMMUNITY; CD4+ T LYMPHOCYTE; CHILD; CLINICAL ARTICLE; FEMALE; FORKHEAD BOX PROTEIN 3 GENE; GAIN OF FUNCTION MUTATION; GENE; HUMAN; HUMAN CELL; IPEX SYNDROME; MALE; MUCOCUTANEOUS CANDIDIASIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REGULATORY T LYMPHOCYTE; STAT1 GENE;

EID: 84878556463     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.11.054     Document Type: Article

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