severe combined immunodeficiency due to DNA-PKcs deficiency
Findings
No curated finding names severe combined immunodeficiency due to DNA-PKcs 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 DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Definition from the Mondo Disease Ontology (MONDO:0014423), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 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.
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- Severe combined immunodeficiencyHPOHP:0004430
- 1 of 1 reported patient
- Abnormal natural killer cell morphologyHPOHP:0012176
- 0 of 1 reported patient
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.
- PRKDCHGNC:9413
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: severe combined immunodeficiency due to DNA-PKcs deficiency
- Also called
- SCID due to DNA-PKcs deficiency