Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

ABSTRACT:

Background

Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients.

Methods

FHL associated gene screening was performed on 87 Saudi patients who were diagnosed with hemophagocytic lymphohistiocytosis (HLH) between 1995 and 2014. The clinical and biochemical profiles were also retrospectively captured and analyzed.

Results

Homozygous mutations and mono-allelic variants were identified in 66 (75.9%) and 3 (3.5%) of the study participants, respectively. STXBP2 was the most frequently mutated gene (36% of patients) and mutations in STXBP2 and STX11 accounted for 58% of all FHL cases and demonstrated a specific geographical pattern. Patients in the F

SUBMITTER: Ahmari AA 

PROVIDER: S-EPMC8246041 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature