Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility

Clinical and Experimental Immunology

Volumn 184, Issue 2, 2016, Pages 216-227

  Dhalla, F ^a   Fox, H ^b   Davenport, E E ^c   Sadler, R ^b   Anzilotti, C ^d   van Schouwenburg, P A ^e   Ferry, B ^b   Chapel, H ^a,e   Knight, J C ^c   Patel, S Y ^a,e  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

chemokine receptors; chronic mucocutaneous candidiasis; surface phenotyping; Th17

Indexed keywords

CD161 ANTIGEN; CHEMOKINE RECEPTOR CCR4; CHEMOKINE RECEPTOR CCR6; CHEMOKINE RECEPTOR CXCR3; INTERLEUKIN 17; STAT1 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CD4+ T LYMPHOCYTE; CELL SURFACE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME LINKED IMMUNOSORBENT ASSAY; EX VIVO STUDY; FEMALE; GAIN OF FUNCTION MUTATION; HELPER CELL; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MIDDLE AGED; MUCOCUTANEOUS CANDIDIASIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; TH17 CELL; WHOLE EXOME SEQUENCING; WILD TYPE;

EID: 84983247081     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/cei.12746     Document Type: Article

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