Common Variable Immunodeficiency
Gene: CD27

CD27 (CD27 molecule)
EnsemblGeneIds (GRCh38): ENSG00000139193
EnsemblGeneIds (GRCh37): ENSG00000139193
OMIM: 186711, Gene2Phenotype
CD27 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia.
Created: 21 Jul 2021, 7:51 a.m. | Last Modified: 21 Jul 2021, 7:51 a.m.

Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia

Publications

Created: 21 Jul 2021, 7:51 a.m.
Last Modified: 21 Jul 2021, 7:51 a.m.
Panel version: 0.100

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Lymphoproliferative syndrome 2
CD27-deficiency MIM# 615122
hepatosplenomegaly
reduced CD8+ T-cell function
lymphadenopathy
hepatosplenomegaly
fever
increased susceptibility to EBV infection
aplastic anaemia

OMIM

186711

Clinvar variants

Variants in CD27

Penetrance

None

Publications

Panels with this gene