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Summary Literature (0)
DOID:0070615 - autoinflammation, antibody deficiency, and immune dysregulation syndrome


Disease Ontology 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.

Synonyms: APLAID, autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)