combined cellular and humoral immune defects with granulomas

A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.

Signs and symptoms

• Decreased total T cell count
• Combined immunodeficiency
• Recurrent respiratory infections
• Decreased total B cell count
• Decreased circulating IgG concentration

Also known as: CCHIDG; CID due to RAG 1/2 deficiency; combined immunodeficiency due to RAG 1/2 deficiency; combined immunodeficiency with granulomatosis; combined immunodeficiency with skin granulomas