autoinflammation, antibody deficiency, and immune dysregulation syndrome

Term ID

DOID:0070615

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. (2)

References

• GARD:17486
• MIM:614878
• ORDO:324530
• UMLS_CUI:C3553961

Ontology

Human Disease   ( DOID:0070615 )