Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis

Indian Pediatrics

Volumn 49, Issue 6, 2012, Pages 488-490

  Jain, Rakhi ^a   Puliyel, Mammen ^a   Moses, Prabhakar D ^a   Sieni, Elena ^b  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Familial Hemophagocytic Lymphohistiocytosis; FHL 5; STXBP2 mutation

Indexed keywords

AMIKACIN; CEFOTAXIME; CYCLOSPORIN; DEXAMETHASONE; HEMOGLOBIN; IMMUNOGLOBULIN; MEROPENEM; VANCOMYCIN;

ABDOMINAL DISTENSION; AMINO ACID SUBSTITUTION; ANTIBIOTIC THERAPY; ARTICLE; BLOOD TRANSFUSION; BONE MARROW EXAMINATION; CASE REPORT; DNA DETERMINATION; ERYTHROPHAGOCYTOSIS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEMOGLOBIN BLOOD LEVEL; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INDIAN; LETHARGY; NEWBORN; PHYSICAL EXAMINATION; SINGLE DRUG DOSE; STXBP2 GENE; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

FEMALE; HUMANS; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUNC18 PROTEINS; MUTATION; PEDIGREE;

EID: 84866039128     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: 10.1007/s13312-012-0094-5     Document Type: Article

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