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Severe combined immunodeficiency due to DCLRE1C deficiency
Disease definition
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:275
Classification level: Disorder- Synonym(s):
- 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
- ICD-11: 4A01.10
- OMIM: 602450
- UMLS: C1865371
- MeSH: C536786
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown.
Clinical description
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.
Etiology
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.
Genetic counseling
Transmission is autosomal recessive.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Português (2003) Polski (2013, pdf)
Detailed information
General public
- Article for general public
- Arabic (2007, pdf) - IPOPI
- Deutsch (2007, pdf) - IPOPI
- Greek (2007, pdf) - IPOPI
- English (2007, pdf) - IPOPI
- Español (2007, pdf) - IPOPI
- Eesti keel (2007, pdf) - IPOPI
- Français (2007, pdf) - IPOPI
- Português (2007, pdf) - IPOPI
- Romanian (2007, pdf) - IPOPI
- Russian (2007, pdf) - IPOPI
- Svenska (2020) - Socialstyrelsen
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