immunodeficiency 109

info · Immune

A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36.

Signs and symptoms

Persistent EBV viremia
Decreased anti-CD3/28-induced T-cell proliferation
Generalized lymphadenopathy
Splenomegaly
Hypertriglyceridemia
Recurrent lower respiratory tract infections
Bronchiectasis
Complete or near-complete absence of specific antibody response to tetanus vaccine
Hypofibrinogenemia
Recurrent sinusitis

Also known as: Immunodeficiency-109 with EBV-induced lymphoproliferation