immunodeficiency 122

info · Genetic

A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13.

Signs and symptoms

Decreased naive CD4+ T cell proportion
Aplasia of the thymus
Decreased naive CD8+ T cell proportion
Alopecia
Increased circulating IgE concentration
Hepatomegaly
Dry skin
Recurrent bacterial infections
Lymphadenopathy
Splenomegaly