immunodeficiency 15A

info · Genetic

A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.

Signs and symptoms

Decreased memory B cell proportion
Decreased total CD4+ T cell proportion
Decreased total CD8+ T cell proportion
Recurrent otitis media
Cutaneous abscess
Recurrent respiratory infections
Recurrent sinusitis
Acne inversa
Recurrent mucocutaneous candidiasis

Also known as: IMD15A