Common Variable Immunodeficiency
Gene: ICOS

ICOS (inducible T-cell costimulator)
EnsemblGeneIds (GRCh38): ENSG00000163600
EnsemblGeneIds (GRCh37): ENSG00000163600
OMIM: 604558, Gene2Phenotype
ICOS is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.
Created: 9 Aug 2021, 1:19 a.m. | Last Modified: 9 Aug 2021, 1:19 a.m.

Panel Version: 0.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea

Publications

Created: 9 Aug 2021, 1:19 a.m.
Last Modified: 9 Aug 2021, 1:19 a.m.
Panel version: 0.112

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency, common variable, 1 MIM# 607594
recurrent bacterial respiratory/gastrointestinal infections
autoimmunity
gastroenteritis
low IgG/IgA
normal-low IgM
hypogammaglobulinaemia
low-normal B-cells
normal T-cells
Bronchitis
Lymphadenopathy
Hepatomegaly
Diarrhoea

OMIM

604558

Clinvar variants

Variants in ICOS

Penetrance

None

Publications

Panels with this gene