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GTR Home > Conditions/Phenotypes > Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Synonyms
Autoimmune lymphoproliferative syndrome, type III

Summary

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 (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALPS3, CVID9, MAY1, PKCD, nPKC-delta, PRKCD
    Summary: protein kinase C delta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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