Disorders of immune dysregulation
Gene: PRKCD

PRKCD (protein kinase C delta)
EnsemblGeneIds (GRCh38): ENSG00000163932
EnsemblGeneIds (GRCh37): ENSG00000163932
OMIM: 176977, Gene2Phenotype
PRKCD is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation. More than 5 unrelated families reported, mouse model.
Created: 9 Aug 2021, 1:36 a.m. | Last Modified: 9 Aug 2021, 1:36 a.m.

Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9

Publications

Created: 9 Aug 2021, 1:36 a.m.
Last Modified: 9 Aug 2021, 1:36 a.m.
Panel version: 0.89

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Autoimmune lymphoproliferative syndrome, type III, MIM# 615559
CVID 9

OMIM

176977

Clinvar variants

Variants in PRKCD

Penetrance

None

Publications

Panels with this gene