immunodeficiency 129

info · Immune

A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14.

Signs and symptoms

Disseminated cutaneous warts
Increased exhausted T cell proportion
Stomatitis
Facial erythema
Emphysema
Burkitt lymphoma