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autoinflammation, antibody deficiency, and immune dysregulation syndrome (DOID:0070615)
Alliance: disease page
Synonyms: APLAID; autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Alt IDs: OMIM:614878, ORDO:324530, UMLS_CUI:C3553961
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory