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Article

Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.

Blood advances - 26 May 2026

Borisov Oleg, Mann Jasmin, Walz Kevin Kim, Oyen Florian, Lichtenfeld Helena Clara, Lehmberg Kai, Köttgen Anna, Ehl Stephan, Wegehaupt Oliver

Abstract excerpt

ABSTRACT: Primary hemophagocytic lymphohistiocytosis (HLH) is mainly caused by biallelic variants in genes disrupting cytotoxic natural killer (NK) cell and T-cell function (PRF1, UNC13D, STX11, STXBP2, RAB27A, and LYST). A "pathway defect accumulation" model proposes that heterozygous variants in multiple familial hemophagocytic lymphohistiocytosis (FHL) genes (digenic or multigenic inheritance) may increase...

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Source

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Identifiers

PMID: 41915890
DOI: 10.1182/bloodadvances.2025018781
PMCID: PMC13207450

Genes

PRF1
LYST
RAB27A
STX11
STXBP2
UNC13D

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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