severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Findings
No curated finding names severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
Definition from the Mondo Disease Ontology (MONDO:0011086), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Abnormal total B cell countHPOHP:0010975
- Very frequent (80% to 99% of cases)
- Abnormal total T cell numberHPOHP:0011839
- Very frequent (80% to 99% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- Very frequent (80% to 99% of cases)
- Decreased circulating IgG concentrationHPOHP:0004315
- Very frequent (80% to 99% of cases)
- Decreased circulating IgM concentrationHPOHP:0002850
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Protracted diarrheaHPOHP:0004385
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases)
- Recurrent enteroviral infectionsHPOHP:0002743
- Frequent (30% to 79% of cases)
- Recurrent fungal infectionsHPOHP:0002841
- Frequent (30% to 79% of cases)
- Recurrent upper and lower respiratory tract infectionsHPOHP:0200117
- Frequent (30% to 79% of cases)
- Recurrent viral infectionsHPOHP:0004429
Genes
2 genes
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
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- RAG2HGNC:9832
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- Also called
- SCID due to complete RAG1/2 deficiencysevere combined immunodeficiency, B cell-negative