Combined Immunodeficiency

Gene: COPG1

I don't know

Segregation of homozygous missense variant in multiple siblings plus mouse model:

Homozygous Copg1K652E mice had increased ER stress in activated T and B cells, poor antibody responses, and normal numbers of T cells that proliferated normally, but underwent increased apoptosis upon activation. Exposure of the mutants to pet store mice caused weight loss, lymphopenia, and defective T cell proliferation that recapitulated the findings in the patients. The ER stress-relieving agent tauroursodeoxycholic acid corrected the immune defects of the mutants and reversed the phenotype they acquired following exposure to pet store mice.

Created: 13 Jul 2022, 8:28 a.m. | Last Modified: 13 Jul 2022, 8:28 a.m.

Panel Version: 1.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 128, MIM# 620983

Publications

• 33529166

Red List (low evidence)

Five Omani siblings, born to consanguineous parents
Sources: Literature

Created: 12 Jul 2022, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined Immune deficiency

Publications

• PMID: 33529166