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Pediatr Blood Cancer. 2008 Aug;51(2):293-5. doi: 10.1002/pbc.21573.

Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.

Author information

1
Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

PMID:
18421721
DOI:
10.1002/pbc.21573
[Indexed for MEDLINE]

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