Primary immunodeficiency
Gene: IRF4Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)Created: 22 Apr 2020, 12:06 p.m. | Last Modified: 22 Apr 2020, 12:06 p.m.
Panel Version: 2.110
Single family reported with Whipple's disease and a rare missense in IRF4. Younger healthy carrier members of the family had the same variant as older affected individuals, leading the authors to speculate about age-dependent penetrance. GWAS indicates separate link with skin/hair/eye pigmentation.
Sources: Expert listCreated: 16 Apr 2020, 11:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Publications
Publications for gene: IRF4 were set to 29537367
Gene: irf4 has been classified as Red List (Low Evidence).
gene: IRF4 was added gene: IRF4 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF4 were set to 29537367 Phenotypes for gene: IRF4 were set to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 Review for gene: IRF4 was set to RED