Disorders of immune dysregulation
Gene: PRKCD
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
Gene: prkcd has been classified as Green List (High Evidence).
Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9
Publications for gene: PRKCD were set to
Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: PRKCD was added gene: PRKCD was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PRKCD was set to Unknown