severe combined immunodeficiency with sensitivity to ionizing radiation

A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.

Signs and symptoms

• Increased circulating IgE concentration
• Hepatomegaly
• Abnormally low T cell receptor excision circle level
• Failure to thrive
• Sepsis
• Decreased total lymphocyte count
• Splenomegaly
• Increased total eosinophil count
• BCGitis
• Alopecia of scalp

Also known as: SCID due to DCLRE1C deficiency; SCID due to artemis deficiency; SCID, Athabascan type; SCID, Athabaskan type; Severe combined immunodeficiency due to DCLRE1C deficiency