| Term Name: | autoinflammation, antibody deficiency, and immune dysregulation syndrome |
|---|---|
| Synonyms: | APLAID, autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
| Definition: | An autoimmune disease 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 that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. |
| Ontology: | Human Disease [DOID:0070615] ( DOID:0070615 ) |