severe combined immunodeficiency due to DCLRE1C deficiency
Findings
No curated finding names severe combined immunodeficiency due to DCLRE1C deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011225), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- Alopecia of scalpHPOHP:0002293
- 1 of 1 reported patient
- BCGitisHPOHP:0020086
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Erythematous papule
Show the remaining 28
- SepsisHPOHP:0100806
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- Very frequent (80% to 99% of cases)
- Occasional (5% to 29% of cases)
- Autoimmune hemolytic anemiaHPOHP:0001890
- Frequent (30% to 79% of cases)
- BronchiectasisHPOHP:0002110
- Frequent (30% to 79% of cases)
- Cutaneous abscessHPOHP:0031292
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCLRE1CHGNC:17642
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: severe combined immunodeficiency due to DCLRE1C deficiency
- Also called
- DCLRE1C severe combined immunodeficiency (disease)SCID due to ARTEMIS deficiencySCID due to DCLRE1C deficiencySCID, Athabascan typeSCID, Athabaskan typesevere combined immunodeficiency (disease) caused by mutation in DCLRE1Csevere combined immunodeficiency due to ARTEMIS deficiency