Term Name: | autoinflammation, antibody deficiency, and immune dysregulation syndrome |
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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 ) |