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Familial hemophagocytic lymphohistiocytosis in two brothers with X‐linked agammaglobulinemia
Author(s) -
Schultz Kris Ann P.,
Neglia Joseph P.,
Smith Angela R.,
Ochs Hans D.,
Torgerson Troy R.,
Kumar Ashish
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21573
Subject(s) - hemophagocytic lymphohistiocytosis , x linked agammaglobulinemia , bruton's tyrosine kinase , medicine , perforin , immunology , mutation , disease , genetics , tyrosine kinase , gene , immune system , biology , receptor , cd8
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. Pediatr Blood Cancer 2008;51:293–295. © 2008 Wiley‐Liss, Inc.