Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Blood

Volumn 127, Issue 25, 2016, Pages 3154-3164

  Toubiana, Julie ^a,b,c   Okada, Satoshi ^d,e   Hiller, Julia ^f,g   Oleastro, Matias ^h   Gomez, Macarena Lagos ⁱ   Becerra, Juan Carlos Aldave ^j   Ouachée Chardin, Marie ^k   Fouyssac, Fanny ^l   Girisha, Katta Mohan ^m   Etzioni, Amos ⁿ   Van Montfrans, Joris ^o   Camcioglu, Yildiz ^p   Kerns, Leigh Ann ^q   Belohradsky, Bernd ^r   Blanche, Stéphane ^a,b   Bousfiha, Aziz ^s   Rodriguez Gallego, Carlos ^t   Meyts, Isabelle ^u   Kisand, Kai ^v   Reichenbach, Janine ^w   Renner, Ellen D ^r   Rosenzweig, Sergio ^x   Grimbacher, Bodo ^y   Van De Veerdonk, Frank L ^z   Traidl Hoffmann, Claudia ^f,g   Picard, Capucine ^a,b,c   Marodi, Laszlo ^aa   Morio, Tomohiro ^ab   Kobayashi, Masao ^e   Lilic, Desa ^ac   Milner, Joshua D ^x   Holland, Steven ^x   Casanova, Jean Laurent ^b,c,d,ad   Puel, Anne ^a,b,c,d   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c IMAGINE INSTITUTE   (France)

^d ROCKEFELLER UNIVERSITY   (United States)

^e HIROSHIMA UNIVERSITY   (Japan)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g CHRISTINE KÜHNE CENTER FOR ALLERGY RESEARCH AND EDUCATION CK CARE   (Switzerland)

^h Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan   (Argentina)

ⁱ UNIVERSIDAD DE VALPARAÍSO   (Chile)

^j HOSPITAL NACIONAL EDGARDO REBAGLIATI MARTINS   (Peru)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l HÔPITAL D ENFANTS   (France)

^m KASTURBA MEDICAL COLLEGE   (India)

ⁿ MEYER CHILDREN S HOSPITAL   (Israel)

^o UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^p ISTANBUL UNIVERSITY   (Turkey)

^q CASE WESTERN RESERVE UNIVERSITY   (United States)

^r LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^s HASSAN II UNIVERSITY   (Morocco)

^t HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^u UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^v UNIVERSITY OF TARTU   (Estonia)

^w UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

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

^y UNIVERSITY OF FREIBURG   (Germany)

^z RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^aa UNIVERSITY OF DEBRECEN   (Hungary)

^ab TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^ac NEWCASTLE UNIVERSITY   (United Kingdom)

^ad HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMPHOTERICIN B; ANTIFUNGAL AGENT; ANTIVIRUS AGENT; BCG VACCINE; COTRIMOXAZOLE; ECHINOCANDIN; FLUCONAZOLE; INTERLEUKIN 17; ITRACONAZOLE; MACROLIDE; POSACONAZOLE; RITUXIMAB; STAT1 PROTEIN; TERBINAFINE; VORICONAZOLE; STAT1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ANEURYSM; ANKYLOSING SPONDYLITIS; ANTIBIOTIC PROPHYLAXIS; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; ASPERGILLOSIS; ATYPICAL MYCOBACTERIOSIS; ATYPICAL MYCOBACTERIUM; AUTOIMMUNE DISEASE; AUTOIMMUNE HEPATITIS; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ARTERY ANEURYSM; BRONCHITIS; CANDIDIASIS; CELIAC DISEASE; CHEILITIS; CHILD; CLINICAL FEATURE; COCCIDIOIDOMYCOSIS; CROHN DISEASE; CRYPTOCOCCUS CURVATUS; CYTOPENIA; DEMOGRAPHY; ENTEROPATHY; EPSTEIN BARR VIRUS INFECTION; FEMALE; FOLLICULITIS; GAIN OF FUNCTION MUTATION; HAEMOPHILUS INFECTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HERPES SIMPLEX VIRUS; HERPES ZOSTER; HETEROZYGOTE; HISTOPLASMOSIS; HORMONE SUBSTITUTION; HUMAN; HUMAN HERPESVIRUS 6; HYPERTHYROIDISM; HYPOTHYROIDISM; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOSUPPRESSIVE TREATMENT; IMMUNOTHERAPY; INSULIN DEPENDENT DIABETES MELLITUS; INTERSTITIAL PNEUMONIA; INTERTRIGO; LOBAR PNEUMONIA; LYMPHOCYTE COUNT; LYMPHOCYTIC INFILTRATION; MAJOR CLINICAL STUDY; MALE; MICROSPOROSIS; MOLLUSCUM CONTAGIOSUM; MUCOCUTANEOUS CANDIDIASIS; MULTIPLE SCLEROSIS; NEOPLASM; NEPHRITIS; ONSET AGE; OUTCOME ASSESSMENT; PARVOVIRUS INFECTION; PHENOTYPE; PNEUMOCYSTIS PNEUMONIA; PRIORITY JOURNAL; PSEUDOMONAS PNEUMONIA; PUSTULE; RASH; RESPIRATORY TRACT INFECTION; SCLERODERMA; SEX RATIO; STAPHYLOCOCCAL SKIN INFECTION; STAPHYLOCOCCUS INFECTION; STOMATITIS; STREPTOCOCCUS PNEUMONIA; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC MYCOSIS; THRUSH; TREATMENT OUTCOME; TRICHOPHYTOSIS; TRICHOSPORONOSIS; TUBERCULOSIS; ULCERATIVE COLITIS; VIRUS KERATITIS; VULVITIS; COHORT ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; INFANT; MIDDLE AGED; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; STAT1 TRANSCRIPTION FACTOR; YOUNG ADULT;

EID: 84977482520     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-11-679902     Document Type: Article

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