Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

Blood

Volumn 129, Issue 5, 2017, Pages 650-653

  Ma, Chi A ^a   Xi, Liqiang ^b   Cauff, Brian ^c   DeZure, Adam ^a   Freeman, Alexandra F ^a   Hambleton, Sophie ^d   Kleiner, Gary ^e   Leahy, T Ronan ^f   O'Sullivan, Maureen ^f   Makiya, Michelle ^a   O'Regan, Grainne ^f   Pittaluga, Stefania ^b   Niemela, Julie ^g   Stoddard, Jennifer ^g   Rosenzweig, Sergio D ^g   Raffeld, Mark ^b   Klion, Amy D ^a   Milner, Joshua D ^a  

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

^b NATIONAL CANCER INSTITUTE   (United States)

^c JOE DIMAGGIO CHILDREN S HOSPITAL   (United States)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; CD19 ANTIGEN; CHEMOKINE RECEPTOR CXCR5; GLYCOPROTEIN P 15095; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN E; INTERLEUKIN 21; INTERLEUKIN 3; INTERLEUKIN 6; MEASLES MUMPS RUBELLA VACCINE; STAT3 PROTEIN; STAT5B PROTEIN; STEROID; STAT5 PROTEIN; STAT5B PROTEIN, HUMAN;

ABDOMINAL DISTENSION; ALMOND; ANGIONEUROTIC EDEMA; ATOPIC DERMATITIS; BRONCHIOLITIS; CASE REPORT; CD4+ T LYMPHOCYTE; CHILD; DIARRHEA; DRUG MEGADOSE; DYSPHAGIA; EOSINOPHILIA; ERYTHEMA; FEMALE; GAIN OF FUNCTION MUTATION; HUMAN; HYPEREOSINOPHILIC SYNDROME; LETTER; LYMPHOPROLIFERATIVE DISEASE; MEASLES; MOSAICISM; ODYNOPHAGIA; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RASH; SOMATIC MUTATION; SUBCUTANEOUS NODULE; URTICARIA; BLOOD; DERMATITIS; GENETICS; IMMUNOLOGY; MUTATION; ONSET AGE; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; T LYMPHOCYTE;

AGE OF ONSET; CHILD, PRESCHOOL; DERMATITIS; DIARRHEA; EOSINOPHILIA; FEMALE; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; STAT5 TRANSCRIPTION FACTOR; SYNDROME; T-LYMPHOCYTES; URTICARIA;

EID: 85014814020     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-09-737817     Document Type: Letter

References (13)

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