U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Synonyms
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION; Autoinflammation, antibody deficiency, and immune dysregulation syndrome; Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APLAID, FCAS3, PLC-IV, PLC-gamma-2, PLCG2
    Summary: phospholipase C gamma 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.