Genetic background of primary and familial HLH in Qatar: registry data and population study.

ABSTRACT:

Background

Familial hemophagocytic lymphohistiocytosis (FHLH) is an inherited life-threatening disease. Five types are identified, with the addition of congenital immunodeficiency syndromes in which HLH is a typical manifestation. The literature on this disease is very scarce in the Middle East, with only a few scattered reports.

Methods

We report detailed demographic, clinical, and genomic data from 28 patients diagnosed with primary and familial HLH over the last decade in Qatar. An evaluation was performed of allele frequencies of deleterious variants from 12 primary and familial HLH causative genes on the Qatar Genome Programme (QGP) cohort of 14,669 Qatari individuals.

Results

The genetic diagnosis was obtained in 15 patients, and four novel mutations in Perfo

SUBMITTER: Elgaali E 

PROVIDER: S-EPMC11130942 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature