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ORPHA:169154

T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency

low confidenceDisorder

Also known as: T-B+NK+ SCID due to IL-7Ralpha deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

5,721

Trials

0

Interventional, condition-specific

Researchers

1,648

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, , fever, diarrhea, and dermatitis.

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 (3)

IL-7R · IL-7Ralpha deficiency · T-B+ SCID due to IL-7Ralpha 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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,721 matched papers (3,231 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

5,721

5,721 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

5,721 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).

3,231 in the last 10 years · low confidence

Phrase hits: 5,721 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,648

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Zhang X9 papers · 2026

    School of Medicine, Shanghai University, Shanghai, 200444, China.

    Papers in Europe PMC
  2. 02
    Wang X8 papers · 2026

    Department of Pharmacy, Friendship Hospital, Chaoyang District, Beijing, 100029, China.

    Papers in Europe PMC
  3. 03
    Chen Y7 papers · 2026

    Department of Stomatology, Ninth Medical Center, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2026

    Huazhong University of Science and Technology Tongji Medical College First Clinical College: Wuhan Union Hospital, Wuhan, China. 15827526626@163.com.

    Papers in Europe PMC
  5. 05
    Liu X7 papers · 2026

    Respiratory Department, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Liu Y6 papers · 2026

    Department of Pathology and Immunology, Washington University School of Medicine in Saint Louis, Saint Louis, MO, USA.

    Papers in Europe PMC
  7. 07
    Zhang J6 papers · 2026

    Zhejiang University Medical Center, Hangzhou 311113, China.

    Papers in Europe PMC
  8. 08
    Zhang Y6 papers · 2026

    Department of Rehabilitation, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jie-Fang Avenue, Qiaokou District, Wuhan, Hubei, 430030, China.

    Papers in Europe PMC
  9. 09
    Arulkumaran N5 papers · 2026

    Bloomsbury Institute of Intensive Care Medicine, University College London, 1.1 Cruciform Building, Gower Street, London, WC1E 6DH, UK. nisharulkumaran@doctors.net.uk.

    Papers in Europe PMC
  10. 10
    Barata JT5 papers · 2025

    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa. joao_barata@medicina.ulisboa.pt.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched 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 IL-7Ralpha deficiency" OR "T-B+NK+ SCID due to IL-7Ralpha deficiency" OR "IL-7R" OR "IL-7Ralpha deficiency" OR "T-B+ SCID due to IL-7Ralpha 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 IL-7Ralpha deficiency" OR "T-B+NK+ SCID due to IL-7Ralpha deficiency" OR "IL-7R" OR "IL-7Ralpha deficiency" OR "T-B+ SCID due to IL-7Ralpha deficiency" OR "T-B+ severe combined immunodeficiency"

Recall-expansion terms: T-B+ severe combined immunodeficiency

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (5721) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:36:21.742Z