Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Prevalence is unknown.
Patients present with the classical features of SCID such as failure to thrive, severe infections (pneumonia, gastrointestinal infections, sepsis), recurrent or persistent thrush, and chronic diarrhea. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings include absence of T and B lymphocytes with normal natural killer (NK) cell count.
SCID due to DCLRE1C deficiency results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation.
Transmission is autosomal recessive.
Last update: March 2013