Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)

Pediatric Blood and Cancer

Volumn 56, Issue 4, 2011, Pages 654-657

  Macartney, Christine A ^a   Weitzman, Sheila ^a   Wood, Stephanie M ^b   Bansal, Deepak ^c   Steele, MacGregor ^c   Meeths, Marie ^b   Abdelhaleem, Mohamed ^a   Bryceson, Yenan T ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c ALBERTA CHILDREN'S HOSPITAL   (Canada)

Author keywords

FHL; Hemophagocytic syndrome; Punjab; Syntaxin 11

Indexed keywords

AMINOTRANSFERASE; PERFORIN; SYNTAXIN; SYNTAXIN 11 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; BONE MARROW; CASE REPORT; CONTROLLED STUDY; CYTOTOXICITY; DEGRANULATION; ERYTHROPHAGOCYTOSIS; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 4; FEMALE; FEVER; FRAMESHIFT MUTATION; GENE SEQUENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOSPLENOMEGALY; HUMAN; HYPERBILIRUBINEMIA; HYPERFERRITINEMIA; HYPERGLYCEMIA; HYPERLIPIDEMIA; HYPERTENSION; HYPERTRICHOSIS; HYPOFIBRINOGENEMIA; INFANT; JAUNDICE; LYMPHADENOPATHY; NATURAL KILLER CELL; NEUTROPENIA; PALLOR; PANCYTOPENIA; PRIORITY JOURNAL; RASH; SEPSIS; TYPHLITIS; WEIGHT REDUCTION; WESTERN BLOTTING;

CELL DEGRANULATION; CYTOTOXICITY, IMMUNOLOGIC; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; INFANT; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; QA-SNARE PROTEINS;

EID: 79551628425     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22676     Document Type: Article

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