Conditions / Immune
autoinflammation, antibody deficiency, and immune dysregulation syndrome
info · Immune
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
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 the PLCG2 gene on chromosome 16q23.
Signs and symptoms
- Decreased circulating IgM concentration
- Interstitial pneumonitis
- Recurrent sinopulmonary infections
- Enterocolitis
- Decreased class-switched memory B cell proportion
- Erythema
- Unusual bronchiolitis
- Arthralgia
- Cellulitis
- Decreased circulating IgA concentration
Also known as: APLAID; autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation