immunodeficiency 92

info · Immune

A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.

Signs and symptoms

Thrombocytosis
Partial absence of specific antibody response to tetanus vaccine
Decreased class-switched memory B cell proportion
Sclerosing cholangitis
Hepatomegaly
BCGosis
Persistent CMV viremia
Pneumonia
Decreased total B cell count
Esophagitis