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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

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 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

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Imported from Human Phenotype Ontology (HPO)

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