Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 1, 2014, Pages

  Chan, Eunice Ching ^a   Bai, Yun ^a   Kirshenbaum, Arnold S ^a   Fischer, Elizabeth R ^b   Simakova, Olga ^c   Bandara, Geethani ^a   Scott, Linda M ^a   Wisch, Laura B ^a   Cantave, Daly ^a   Carter, Melody C ^a   Lewis, John C ^d   Noel, Pierre ^d   Maric, Irina ^c   Gilfillan, Alasdair M ^a   Metcalfe, Dean D ^a   Wilson, Todd M ^a  

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

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

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d MAYO CLINIC   (United States)

Author keywords

germline; K509I; KIT; mast cells; mastocytosis; well differentiated

Indexed keywords

ACETYLSALICYLIC ACID; ANTIHISTAMINIC AGENT; CD34 ANTIGEN; CROMOGLYCATE DISODIUM; IMATINIB; IMMUNOGLOBULIN E; INTERLEUKIN 2 RECEPTOR ALPHA; PREDNISONE; STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CELL ACTIVATION; CELL CULTURE; CELL DIFFERENTIATION; CELL FUNCTION; CELL MATURATION; CELL STRUCTURE; CELL SURVIVAL; CLINICAL FEATURE; CONTROLLED STUDY; DRUG DOSE INCREASE; DRUG HYPERSENSITIVITY; DRUG WITHDRAWAL; ERYTHEMA; EXON; FEMALE; GENE; GENETIC TRANSDUCTION; GERMLINE MUTATION; GRANULAR CELL; HEADACHE; HUMAN; HUMAN CELL; KIT GENE; MAST CELL; MAST CELL DEGRANULATION; MASTOCYTOSIS; PERIPHERAL BLOOD STEM CELL; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; ALTERNATIVE RNA SPLICING; CELL PROLIFERATION; DEGRANULATION; DRUG EFFECTS; GENE EXPRESSION; GENETICS; IMMUNOLOGY; PATHOLOGY; SYSTEMIC MASTOCYTOSIS;

ADULT; ALTERNATIVE SPLICING; CELL DEGRANULATION; CELL DIFFERENTIATION; CELL PROLIFERATION; CELL SURVIVAL; CELLS, CULTURED; FEMALE; GENE EXPRESSION; GERM-LINE MUTATION; HUMANS; MAST CELLS; MASTOCYTOSIS, SYSTEMIC; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-KIT; STEM CELL FACTOR; TRANSDUCTION, GENETIC;

EID: 84903707149     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.12.1090     Document Type: Article

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