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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe combined immunodeficiency due to DCLRE1C deficiency
Xeroderma pigmentosum complementation group E

DCLRE1C DDB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DCLRE1C
(0.68)
DDB2



Citations in the biomedical literature:


Severe combined immunodeficiency due to DCLRE1C deficiency
DCLRE1C
Xeroderma pigmentosum complementation group E
DDB2



Severe combined immunodeficiency due to DCLRE1C deficiency
Xeroderma pigmentosum complementation group E

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

Synonym(s):
- XPE

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.