title: Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
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.
authors.affiliation: Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
authors.forename: Kris Ann P
authors.initials: KA
authors.lastname: Schultz
authors.forename: Joseph P
authors.initials: JP
authors.lastname: Neglia
authors.forename: Angela R
authors.initials: AR
authors.lastname: Smith
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Troy R
authors.initials: TR
authors.lastname: Torgerson
authors.forename: Ashish
authors.initials: A
authors.lastname: Kumar
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D035781:Siblings
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human