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 )

Relationships
is a type of: autosomal dominant disease primary immunodeficiency disease