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ORPHA:35078

T-B+NK- severe combined immunodeficiency due to JAK3 deficiency

high confidenceDisorder

Also known as: T-B+NK- SCID due to JAK3 deficiency

Publications

5

15.2th percentile

Trials

4

Interventional, condition-specific

Researchers

38

Distinct authors in sample

Gene link

JAK3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

SCID, autosomal recessive, T-negative/B-positive type · T-B+ SCID due to JAK3 deficiency · T-B+ severe combined immunodeficiency due to JAK3 deficiency · T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — JAK3

  2. LiteraturePresent

    5 matched papers (3 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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 (JAK3).

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?

5

5 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.

5 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).

3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

38

Distinct author names in 5 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.

  1. 01
    Abdulwahab 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
  2. 02
    Abouelhoda 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
  3. 03
    Abuyousef 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
  4. 04
    Ahmad Shaik N1 paper · 2022

    Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Albreacan 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
  6. 06
    Alkuraya 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
  7. 07
    Almansouri M1 paper · 2022

    Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Almukadi H1 paper · 2022

    Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Alrayes N1 paper · 2022

    Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Alsohime 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?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

Likely 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 JAK3 deficiency" OR "T-B+NK- SCID due to JAK3 deficiency" OR "SCID, autosomal recessive, T-negative/B-positive type" OR "T-B+ SCID due to JAK3 deficiency" OR "T-B+ severe combined immunodeficiency due to JAK3 deficiency" OR "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"T-B+NK- severe combined immunodeficiency due to JAK3 deficiency" OR "T-B+NK- SCID due to JAK3 deficiency" OR "SCID, autosomal recessive, T-negative/B-positive type" OR "T-B+ SCID due to JAK3 deficiency" OR "T-B+ severe combined immunodeficiency due to JAK3 deficiency" OR "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" OR "JAK3"

Recall-expansion terms: JAK3

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

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 2026-07-26T23:43:22.453Z