Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1

Journal of Clinical Immunology

Volumn 36, Issue 7, 2016, Pages 641-648

  Baris, Safa ^a   Alroqi, Fayhan ^b   Kiykim, Ayca ^a   Karakoc Aydiner, Elif ^a   Ogulur, Ismail ^a   Ozen, Ahmet ^a   Charbonnier, Louis Marie ^b   Bakır, Mustafa ^a   Boztug, Kaan ^c   Chatila, Talal A ^b   Barlan, Isil B ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

Author keywords

autoimmunity; combined immunodeficiency; gain of function mutation; mucocutaneous candidiasis; ruxolitinib; STAT1

Indexed keywords

BETA INTERFERON; CD19 ANTIGEN; CORTICOSTEROID; FLUCONAZOLE; GAMMA INTERFERON; GANCICLOVIR; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; INTERLEUKIN 17; RUXOLITINIB; STAT1 PROTEIN; TUBERCULOSTATIC AGENT; BIOLOGICAL MARKER; CYTOKINE; IMMUNOGLOBULIN CLASS; JANUS KINASE; PYRAZOLE DERIVATIVE;

ADULT RESPIRATORY DISTRESS SYNDROME; AMINO ACID SUBSTITUTION; ANTIVIRAL THERAPY; ARTICLE; B LYMPHOCYTE; CASE REPORT; CD4 CD8 RATIO; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CORTICOSTEROID THERAPY; CYTOMEGALOVIRUS INFECTION; DNA BINDING; FEMALE; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOTHERAPY; LIVER BIOPSY; LUNG TUBERCULOSIS; MYCOBACTERIUM TUBERCULOSIS; NATURAL KILLER CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RECURRENT INFECTION; T LYMPHOCYTE; THRUSH; VIRUS PNEUMONIA; ANTAGONISTS AND INHIBITORS; AUTOIMMUNITY; BLOOD; COMPLICATION; DNA MUTATIONAL ANALYSIS; DOMINANT GENE; GENE EXPRESSION; GENETICS; IMMUNOLOGY; IMMUNOPHENOTYPING; INFANT; INFECTION; MALE; METABOLISM; ONSET AGE; PEDIGREE; PHOSPHORYLATION; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE SUBPOPULATION; X-RAY COMPUTED TOMOGRAPHY;

AGE OF ONSET; AUTOIMMUNITY; BIOMARKERS; CYTOKINES; DNA MUTATIONAL ANALYSIS; FEMALE; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENES, DOMINANT; HETEROZYGOTE; HUMANS; IMMUNOGLOBULIN ISOTYPES; IMMUNOPHENOTYPING; INFANT; INFECTION; INTERFERON-BETA; JANUS KINASES; MALE; PEDIGREE; PHOSPHORYLATION; PYRAZOLES; SEVERE COMBINED IMMUNODEFICIENCY; STAT1 TRANSCRIPTION FACTOR; T-LYMPHOCYTE SUBSETS; TOMOGRAPHY, X-RAY COMPUTED; TURKEY;

EID: 84977138681     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0312-3     Document Type: Article

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