proteosome-associated autoinflammatory syndrome 2

info · Genetic

A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.

Signs and symptoms

Antinuclear antibody positivity
Decreased memory B cell proportion
Recurrent bacterial infections
Lipodystrophy
Fever
Elevated erythrocyte sedimentation rate
Abnormal circulating IgM concentration
Subcutaneous nodule
Anti-thyroglobulin antibody positivity
Increased circulating IgA concentration

Also known as: PRAAS2