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severe combined immunodeficiency due to DNA-PKcs deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe combined immunodeficiency due to DNA-PKcs deficiency

MONDO:0014423

Also known as:SCID due to DNA-PKcs deficiencyimmunodeficiency 26, with or without neurologic abnormalitiesIMD26

Overview

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.

GeneticsAutosomal recessive · PRKDC (chr 8)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased total T cell count, Severe combined immunodeficiency, and Decreased total B cell count; and sometimes findings: Long philtrum, Seizure, Brain atrophy, and Prominent forehead and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent lower respiratory tract infections, Severe combined immunodeficiency

Genetic Landscape

PRKDC function has not been fully characterized.

Severe combined immunodeficiency due to DNA-PKcs deficiency is caused by mutations in the PRKDC gene on chromosome 8.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PRKDC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe combined immunodeficiency due to DNA-PKcs deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for severe combined immunodeficiency due to DNA-PKcs deficiency.

103 publications have been identified in PubMed for severe combined immunodeficiency due to DNA-PKcs deficiency. Kisho has analyzed 68 by research type. Research spans Review / Meta-Analysis (47%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Research summaries	32	47%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615966

Orphanet

European rare disease database

Orphanet:317425

GARD

Genetic and Rare Diseases Info Center

GARD:17441

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

severe combined immunodeficiency due to DNA-PKcs deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

severe combined immunodeficiency due to DNA-PKcs deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications