A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.

ABSTRACT:

Background/objectives

Geographic and ethnic differences influence the genetic landscape of hemophagocytic lymphohistiocytosis (HLH) and the frequency of familial HLH (FHL); this in turn can affect outcomes.

Methods

We collected data on 98 patients treated for HLH between 1 January 2001 and 31 July 2024 at four tertiary centers, characterizing the genotype/phenotype correlations.

Results

Half of the patients, 51 (52%), were symptomatic by age 1 year and 43 (44%) were diagnosed by that age. Our varied population included 43% Sephardic/Ashkenazi/Ethiopian Jews, 50% Muslim Arabs, and 7% Druze. Molecular analysis was performed on 90.5% of patients and revealed an FHL-related variant in 72%. The genetic variation included biallelic variants in PRF1 (21), UNC13D

SUBMITTER: Brik Simon D 

PROVIDER: S-EPMC12652584 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature