Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

Blood

Volumn 116, Issue 15, 2010, Pages 2635-2643

  Meeths, Marie ^a   Entesarian, Miriam ^a   Al Herz, Waleed ^b   Chiang, Samuel C C ^a   Wood, Stephanie M ^a   Al Ateeqi, Wafa ^c   Almazan, Francisco ^d   Boelens, Jaap J ^e   Hasle, Henrik ^f   Ifversen, Marianne ^g   Lund, Bendik ^h   Van Den Berg, J Merlijn ⁱ   Gustafsson, Britt ^a   Hjelmqvist, Hans ^a   Nordenskjöld, Magnus ^a   Bryceson, Yenan T ^a   Henter, Jan Inge ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b AL SABAH HOSPITAL   (Kuwait)

^c Al Ameri Hospital   (Kuwait)

^d HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f AARHUS UNIVERSITY HOSPITAL   (Denmark)

^g Rigshospitalet   (Denmark)

^h TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2; MUNC18 PROTEIN; STXBP2 PROTEIN; UNCLASSIFIED DRUG; STXBP2 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BLEEDING DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLITIS; CYTOTOXICITY; DEGRANULATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5; FEMALE; GENE MUTATION; GENETIC CODE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; IMMUNOGLOBULIN DEFICIENCY; IN VITRO STUDY; LYMPHOCYTE ACTIVATION; MALE; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SIBLING; AGAMMAGLOBULINEMIA; BLEEDING; CASE REPORT; CLASSIFICATION; GASTROINTESTINAL DISEASE; GENETICS; IMMUNOLOGY; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADOLESCENT; AGAMMAGLOBULINEMIA; CHILD; CHILD, PRESCHOOL; CYTOTOXICITY, IMMUNOLOGIC; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL DISEASES; HEMORRHAGE; HUMANS; INFANT; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUNC18 PROTEINS; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 77957954413     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-05-282541     Document Type: Article

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