immunodeficiency 112

info · Genetic

A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21.

Signs and symptoms

Decreased circulating IgM concentration
Recurrent lower respiratory tract infections
Decreased class-switched memory B cell proportion
BCGosis
Decreased gamma-delta T cell proportion
Decreased circulating IgA concentration
Decreased circulating IgG concentration
Decreased total B cell count
Recurrent bacterial infections
Recurrent viral infections