Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Blood

Volumn 125, Issue 4, 2015, Pages 591-599

  Milner, Joshua D ^a   Vogel, Tiphanie P ^b   Forbes, Lisa ^c   Ma, Chi A ^a   Stray Pedersen, Asbjorg ^c,d   Niemela, Julie E ^e   Lyons, Jonathan J ^a   Engelhardt, Karin R ^f   Zhang, Yu ^a   Topcagic, Nermina ^b   Roberson, Elisha D O ^b   Matthews, Helen ^a   Verbsky, James W ^g   Dasu, Trivikram ^g   Vargas Hernandez, Alexander ^c   Varghese, Nidhy ^c   McClain, Kenneth L ^c   Karam, Lina B ^c   Nahmod, Karen ^c   Makedonas, George ^c   Mace, Emily M ^c   Sorte, Hanne S ^d   Perminow, Gori ^d   Koneti Rao, V ^a   O'Connell, Michael P ^a   Price, Susan ^a   Su, Helen C ^a   Butrick, Morgan ^a   McElwee, Joshua ^h   Hughes, Jason D ^h   Willet, Joseph ^f   Swan, David ^f   Xu, Yaobo ^f   Santibanez Koref, Mauro ^f   Slowik, Voytek ⁱ   Dinwiddie, Darrell L ^i,j   Ciaccio, Christina E ⁱ   Saunders, Carol J ^i,k   Septer, Seth ⁱ   Kingsmore, Stephen F ^i,k   White, Andrew J ^b   Cant, Andrew J ^f,l   Hambleton, Sophie ^f,l   Cooper, Megan A ^b   more..

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

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g MEDICAL COLLEGE OF WISCONSIN   (United States)

^h MERCK RESEARCH LABORATORIES   (United States)

ⁱ CHILDREN S MERCY HOSPITAL   (United States)

^j UNIVERSITY OF NEW MEXICO HEALTH SCIENCES CENTER   (United States)

^k UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^l Infectious Diseases Allergy   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 6; RITUXIMAB; STAT1 PROTEIN; STAT3 PROTEIN; STAT5 PROTEIN; TOCILIZUMAB; TUMOR NECROSIS FACTOR INHIBITOR; STAT1 PROTEIN, HUMAN; STAT3 PROTEIN, HUMAN;

ADOLESCENT; ANTIGEN BINDING; APOPTOSIS; ARTICLE; AUTOIMMUNE CYTOPENIA; AUTOIMMUNE DISEASE; AUTOIMMUNE ENTEROPATHY; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNE THROMBOCYTOPENIA; AUTOIMMUNITY; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DRUG TREATMENT FAILURE; ENDOCRINE DISEASE; FEMALE; GAIN OF FUNCTION MUTATION; GASTROINTESTINAL DISEASE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GERMLINE MUTATION; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HUMAN; IMMUNE DYSREGULATION; INFECTION; INTRACELLULAR SIGNALING; LIVER DISEASE; LUNG DISEASE; LYMPHADENOPATHY; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; MALE; MISSENSE MUTATION; NEUTROPENIA; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REGULATORY T LYMPHOCYTE; SCHOOL CHILD; SHORT STATURE; SIGNAL TRANSDUCTION; TH17 CELL; TREATMENT RESPONSE; ADULT; CLINICAL TRIAL; GENETIC DISORDER; GENETICS; IMMUNOLOGY; INFANT; LYMPHOPROLIFERATIVE DISEASE; MULTICENTER STUDY; MUTATION; PATHOLOGY; PHOSPHORYLATION;

ADOLESCENT; ADULT; AUTOIMMUNE DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; LYMPHOPROLIFERATIVE DISORDERS; MALE; MUTATION; PHOSPHORYLATION; STAT1 TRANSCRIPTION FACTOR; STAT3 TRANSCRIPTION FACTOR; STAT5 TRANSCRIPTION FACTOR; T-LYMPHOCYTES, REGULATORY;

EID: 84921525891     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-09-602763     Document Type: Article

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