combined immunodeficiency due to partial RAG1 deficiency
Findings
No curated finding names combined immunodeficiency due to partial RAG1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Definition from the Mondo Disease Ontology (MONDO:0012359), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- FeverHPOHP:0001945
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- Increased gamma-delta T cell proportionHPOHP:0500270
- 4 of 4 reported patients
- Interstitial pneumonitisHPOHP:0006515
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Pneumocystis jirovecii pneumoniaHPOHP:0020102
- 1 of 1 reported patient
- Protracted diarrheaHPOHP:0004385
- 1 of 1 reported patient
- Severe cytomegalovirus infection
Show the remaining 9
- Severe combined immunodeficiencyHPOHP:0004430
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Autoimmune hemolytic anemiaHPOHP:0001890
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Increased total eosinophil countHPOHP:0001880
- 2 of 3 reported patients
- Autoimmune neutropeniaHPOHP:0001904
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Antinuclear antibody positivityHPOHP:0003493
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.
- RAG1HGNC:9831
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: combined immunodeficiency due to partial RAG1 deficiency
- Also called
- CID due to partial RAG1 deficiencyCID with expansion of gamma delta T cellscombined immunodeficiency with expansion of gamma delta T cells