ORPHA:277
T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency
Also known as: ADA deficiency · T-B-NK- SCID due to adenosine deaminase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
2,995
93.9th percentile
Trials
—
Interventional, condition-specific
Researchers
1,318
Distinct authors in sample
Gene link
ADA
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007064
- MeSH:C531816
- OMIM:102700
- UMLS:C0392607
- NCIT:C3962
Additional Mondo synonyms (9)
ADA-SCID · SCID due to ADA deficiency · SCID due to ADA deficiency, early-onset · SCID due to adenosine deaminase deficiency · adenosine deaminase deficiency · adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism · adenosine deaminase deficient severe combined immunodeficiency · severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism · severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
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
Definitive — ADA
- LiteraturePresent
2,995 matched papers (1,246 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 (ADA).
GenCC classification: Definitive.
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?
2,995
2,995 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,995 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).
1,246 in the last 10 years · high confidence · 93.9th percentile (publications denominator)
Phrase hits: 2,995 · MeSH hits: 0
Who's working on it?
1,318
Distinct author names in 200 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.
- 01Kohn DB21 papers · 2026
Departments of Microbiology, Immunology & Molecular Genetics; Pediatrics; and Molecular and Medical Pharmacology, University of California, Los Angeles, 3163 Terasaki Life Science Bldg., 610 Charles E. Young Drive East, Los Angeles, CA, 90095, USA. dkohn1@mednet.ucla.edu.
Papers in Europe PMC - 02Aiuti A19 papers · 2025
San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 03Hershfield MS14 papers · 2026
Departments of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC.
Papers in Europe PMC - 04Booth C10 papers · 2025
Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. c.booth@ucl.ac.uk.
Papers in Europe PMC - 05Candotti F10 papers · 2023
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and.
Papers in Europe PMC - 06Cicalese MP10 papers · 2024
San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 07Gaspar HB10 papers · 2025
Molecular and Cellular Immunology Section, UCL Institute of Child Health, University College London, London, UK.
Papers in Europe PMC - 08Ferrua F9 papers · 2024
San Raffaele Telethon Institute for Gene Therapy, Milan, Italy.
Papers in Europe PMC - 09Garabedian E9 papers · 2025
Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 10Barzaghi F8 papers · 2024
Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.
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 adenosine deaminase deficiency" OR "ADA deficiency" OR "T-B-NK- SCID due to adenosine deaminase deficiency" OR "ADA-SCID" OR "SCID due to ADA deficiency" OR "SCID due to ADA deficiency, early-onset" OR "SCID due to adenosine deaminase deficiency" OR "adenosine deaminase deficiency" OR "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" OR "adenosine deaminase deficient severe combined immunodeficiency" OR "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" OR "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: ADA, T-B- severe combined immunodeficiency, familial severe combined immunodeficiency
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22T-B-NK-%20severe%20combined%20immunodeficiency%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA%20deficiency%22%20OR%20%22T-B-NK-%20SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA-SCID%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%2C%20early-onset%22%20OR%20%22SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%2C%20partial%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22adenosine%20deaminase%20deficient%20severe%20combined%20immunodeficiency%22%20OR%20%22severe%20combined%20immunodeficiency%20due%20to%20ADA%20deficiency%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22severe%20combined%20immunodeficiency%2C%20autosomal%20recessive%2C%20T%20cell-negative%2C%20B%20cell-negative%2C%20NK%20cell-negative%2C%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA%22%20OR%20%22T-B-%20severe%20combined%20immunodeficiency%22%20OR%20%22familial%20severe%20combined%20immunodeficiency%22&format=json&pageSize=100&countTotal=true — Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22T-B-NK-%20severe%20combined%20immunodeficiency%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA%20deficiency%22%20OR%20%22T-B-NK-%20SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA-SCID%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%22%20OR%20%22SCID%20due%20to%20ADA%20deficiency%2C%20early-onset%22%20OR%20%22SCID%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%22%20OR%20%22adenosine%20deaminase%20deficiency%2C%20partial%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22adenosine%20deaminase%20deficient%20severe%20combined%20immunodeficiency%22%20OR%20%22severe%20combined%20immunodeficiency%20due%20to%20ADA%20deficiency%2C%20Autosomal%20recessive%2C%20Somatic%20mosaicism%22%20OR%20%22severe%20combined%20immunodeficiency%2C%20autosomal%20recessive%2C%20T%20cell-negative%2C%20B%20cell-negative%2C%20NK%20cell-negative%2C%20due%20to%20adenosine%20deaminase%20deficiency%22%20OR%20%22ADA%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 2026-07-26T13:11:49.351Z