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Severe combined immunodeficiency due to DCLRE1C deficiency

Orpha number ORPHA275
Synonym(s) SCID due to DCLRE1C deficiency
SCID due to artemis 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 1-9 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • D81.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

Expert reviewer(s)

  • Dr Andrew GENNERY

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Article for general public
  • PT (2007,pdf)
  • EN (2007,pdf)
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  • DE (2007,pdf)
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