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Severe combined immunodeficiency due to DCLRE1C deficiency
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.
ORPHA:275Classification level: Disorder
- SCID due to ARTEMIS deficiency
- SCID due to DCLRE1C deficiency
- SCID, Athabascan type
- SCID, Athabaskan type
- Severe combined immunodeficiency due to ARTEMIS deficiency
- Severe combined immunodeficiency, Athabascan type
- Severe combined immunodeficiency, Athabaskan type
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: D81.1
- OMIM: 602450
- UMLS: C1865372
- MeSH: -
- GARD: -
- MedDRA: -
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.
Article for general public
- Summary information
- Polski (2013, pdf)