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Start free with EleplanT-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency
ORPHA:275Disease
Also called SCID T-B-NK+ due to ARTEMIS deficiency · SCID T-B-NK+ due to DCLRE1C deficiency · SCID T-B-NK+, Athabascan type · SCID T-B-NK+, Athabaskan type · T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency · T-B-NK+ severe combined immunodeficiency, Athabascan type · T-B-NK+ severe combined immunodeficiency, Athabaskan type
What it is
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
10Sometimes5–29%
15- Autoimmune thrombocytopenia
- Autoimmunity
- Chronic oral candidiasis
- Decreased proportion of CD3-positive T cells
- Failure to thrive
- Intractable diarrhea
- Juvenile rheumatoid arthritis
- Neoplasm
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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