immunodeficiency 86

info · Immune

A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21.

Signs and symptoms

BCGitis
Decreased circulating IgG concentration
Increased circulating IgM concentration
Decreased neutrophil oxidative burst