New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

Journal of Medical Genetics

Volumn 50, Issue 9, 2013, Pages 567-578

  Soltész, Beáta ^a   Tóth, Beáta ^a   Shabashova, Nadejda ^b   Bondarenko, Anastasia ^c   Okada, Satoshi ^d   Cypowyj, Sophie ^d   Abhyankar, Avinash ^d   Csorba, Gabriella ^a   Taskó, Szilvia ^a   Sarkadi, Adrien Katalin ^a   Méhes, Leonóra ^a   Rozsíval, Pavel ^e   Neumann, David ^e   Chernyshova, Liudmyla ^c   Tulassay, Zsolt ^f   Puel, Anne ^g   Casanova, Jean Laurent ^d,g   Sediva, Anna ^h   Litzman, Jiri ⁱ   Maródi, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b NORTH WESTERN STATE MEDICAL UNIVERSITY NAMED AFTER I I MECHNIKOV   (Russian Federation)

^c SHUPYK NATIONAL MEDICAL ACADEMY OF POSTGRADUATE EDUCATION   (Ukraine)

^d ROCKEFELLER UNIVERSITY   (United States)

^e UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

^f SEMMELWEIS UNIVERSITY   (Hungary)

^g IMAGINE INSTITUTE   (France)

^h UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

ⁱ ST ANNE S UNIVERSITY HOSPITAL   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; GAMMA INTERFERON; GENOMIC DNA; INTERLEUKIN 17; INTERLEUKIN 1BETA; INTERLEUKIN 22; INTERLEUKIN 6; STAT1 PROTEIN;

ARTICLE; BRAIN ARTERY ANEURYSM; BRAIN HEMORRHAGE; BRONCHIECTASIS; CANDIDA ALBICANS; CHRONIC DISEASE; CLINICAL FEATURE; CYTOKINE PRODUCTION; DNA SEQUENCE; ESOPHAGUS STENOSIS; EXOME; GAIN OF FUNCTION MUTATION; HAPLOTYPE; HERPES SIMPLEX; HUMAN; HUMAN CELL; INTRACRANIAL ANEURYSM; LUNG ABSCESS; LYMPHOCYTE DIFFERENTIATION; MUCOCUTANEOUS CANDIDIASIS; NONHUMAN; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; SEQUENCE ANALYSIS; T LYMPHOCYTE;

CANDIDA;

ADOLESCENT; ADULT; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD; CYTOKINES; EUROPE, EASTERN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC TESTS; LEUKOCYTES, MONONUCLEAR; MIDDLE AGED; MUTATION; PHOSPHORYLATION; PROTEIN STRUCTURE, TERTIARY; STAT1 TRANSCRIPTION FACTOR;

EID: 84883157575     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101570     Document Type: Article

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