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.

Also known as: IMD96, immunodeficiency 96, immunodeficiency, autosomal recessive due to LIG1 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 96 itself.