immunodeficiency 96
An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.
MONDO:0021094
immunodeficiency disease
is_a
IMD96
exact
immunodeficiency 96
exact
immunodeficiency, autosomal recessive due to LIG1 deficiency
exact
SPAC20G8.01 SPBC713.06