Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 118 (22), 5794-8

Hypomorphic Mutations in PRF1, MUNC13-4, and STXBP2 Are Associated With Adult-Onset Familial HLH

Affiliations

Hypomorphic Mutations in PRF1, MUNC13-4, and STXBP2 Are Associated With Adult-Onset Familial HLH

Kejian Zhang et al. Blood.

Abstract

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defects in cell-mediated cytotoxicity that results in fever, hepatosplenomegaly, and cytopenias. Familial HLH is well recognized in children but rarely diagnosed in adults. We conducted a retrospective review of genetic and immunologic test results in patients who developed HLH in adulthood. Included in our study were 1531 patients with a clinical diagnosis of HLH; 175 patients were 18 years or older. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). The preponderance of hypomorphic mutations in familial HLH-causing genes correlates with the later-onset clinical symptoms and the more indolent course in adult patients. We conclude that late-onset familial HLH occurs more commonly than was suspected previously.

Comment in

Similar articles

See all similar articles

Cited by 78 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

Feedback