Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL27RA

I don't know

PMID:38509369 reported three children from two families with severe acute primary Epstein-Barr virus infection. One family was reported with a homozygous p.Gln96Ter variant and the other family was reported with compound heterozygous variants - an-inframe deletion of (p.Gln381_Ala395del) and a missense variant p.Arg446Gly. p.Arg446Gly was enriched in the Finnish population (minor allele frequency = 0.0068) and was identified in homozygous state in 15 individuals from FinnGen database, which contains >400,000 individuals. Two of these individuals had hospital diagnoses of EBV infectious mononucleosis (IM). There is extensive ex vivo and in vitro data available, including mice model.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

The evidence available suggests that the rating should be borderline amber/ green due to functional data. Hence, the 'watchlist' tag has been added with amber rating.

Created: 8 Nov 2024, 5:57 p.m. | Last Modified: 8 Nov 2024, 6:01 p.m.

Panel Version: 7.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epstein-Barr virus infection, MONDO:0005111

Publications

• 38509369

Green List (high evidence)

as described by Boaz Palterer, but enough evidence for the green rating

Created: 17 Oct 2024, 1:37 p.m. | Last Modified: 17 Oct 2024, 1:37 p.m.

Panel Version: 6.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Red List (low evidence)

Martin et al described 3 patients from two kindreds with homozygous IL27RA deficiency, presenting with severe primo EBV infection. Extensive ex vivo and in vitro data, including mice model.
Sources: Literature

Created: 29 Aug 2024, 5:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe EBV infection

Publications

• 38509369