ORPHA:331206
T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency
Also known as: T-B-NK+ SCID due to complete RAG1/2 deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase). Source fetch failed for trials.
Publications
10
23.5th percentile
Trials
—
Interventional, condition-specific
Researchers
104
Distinct authors in sample
Gene link
RAG1, RAG2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Severe combined immunodeficiency due to complete RAG1/2 deficiency is 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 onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, 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.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011086
- MeSH:C563311
- OMIM:601457
- UMLS:C1832322
Additional Mondo synonyms (3)
SCID due to complete RAG1/2 deficiency · severe combined immunodeficiency, B cell-negative · severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Strong — RAG1, RAG2
- LiteraturePresent
10 matched papers (7 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot checked
Trial fetch failed or incomplete
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (RAG1, RAG2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
10
10 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
10 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
104
Distinct author names in 10 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Abdulwahab F1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 02Abouelhoda M1 paper · 2023
Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mabouelhoda@kfshrc.edu.sa.
Papers in Europe PMC - 03Abuyousef O1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 04Al Alawi I1 paper · 2015
National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
Papers in Europe PMC - 05Al Harasi S1 paper · 2015
National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
Papers in Europe PMC - 06Al Lawati F1 paper · 2015
National Genetic Center, Ministry of Health, Muscat, PC 111, Oman.
Papers in Europe PMC - 07Al Salmi Q1 paper · 2015
Royal Hospital, Ministry of Health, Muscat, PC 111, Oman.
Papers in Europe PMC - 08Albreacan M1 paper · 2023
Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Alkuraya FS1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Papers in Europe PMC - 10Alsohime F1 paper · 2023
Department of Pediatrics, Pediatric Critical Care Unit, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Severe combined immunodeficiency (SCID) as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency" OR "T-B-NK+ SCID due to complete RAG1/2 deficiency" OR "SCID due to complete RAG1/2 deficiency" OR "severe combined immunodeficiency, B cell-negative" OR "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"
MeSH descriptor terms unioned into the query: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: RAG1, RAG2, T-B- severe combined immunodeficiency, familial severe combined immunodeficiency
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22T-B-NK%2B%20%20severe%20combined%20immunodeficiency%20due%20to%20complete%20RAG1%2F2%20deficiency%22%20OR%20%22T-B-NK%2B%20SCID%20due%20to%20complete%20RAG1%2F2%20deficiency%22%20OR%20%22SCID%20due%20to%20complete%20RAG1%2F2%20deficiency%22%20OR%20%22severe%20combined%20immunodeficiency%2C%20B%20cell-negative%22%20OR%20%22severe%20combined%20immunodeficiency%2C%20autosomal%20recessive%2C%20T%20cell-negative%2C%20B%20cell-negative%2C%20NK%20cell-positive%22%20OR%20%22RAG1%22%20OR%20%22RAG2%22%20OR%20%22T-B-%20severe%20combined%20immunodeficiency%22%20OR%20%22familial%20severe%20combined%20immunodeficiency%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:08:53.768Z