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ORPHA:276

T-B+NK- severe combined immunodeficiency due to gamma chain deficiency

high confidenceDisorder

Also known as: SCIDX1 · T-B+K- severe combined immunodeficiency, X-linked · T-B+NK- SCID due to gamma chain deficiency

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

Publications

1,762

92th percentile

Trials

11

Interventional, condition-specific

Researchers

1,448

Distinct authors in sample

Gene link

IL2RG

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and .

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

T-B+ SCID due to gamma chain deficiency · T-B+ severe combined immunodeficiency due to gamma chain deficiency · T-B+ severe combined immunodeficiency, X-linked · X-linked severe combined immunodeficiency · XSCID · severe combined immunodeficiency, X-linked, X-linked recessive

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 — IL2RG

  2. LiteraturePresent

    1,762 matched papers (692 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

    11 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (IL2RG).

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?

1,762

1,762 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.

1,762 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).

692 in the last 10 years · high confidence · 92th percentile (publications denominator)

Phrase hits: 1,762 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,448

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.

  1. 01
    De Ravin SS7 papers · 2026

    Genetic Immunotherapy, Laboratory of Host Defense, National Institutes of Health, Building 10, Room 5-3816, 5 West Labs CRC, 10 Center Drive MSC1456, Bethesda, MD 20892-1456, USA. sderavin@nih.gov

    Papers in Europe PMC
  2. 02
    Leonard WJ7 papers · 2019

    Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA. Electronic address: leonardw@nhlbi.nih.gov.

    Papers in Europe PMC
  3. 03
    Malech HL7 papers · 2022

    Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA. hmalech@niaid.nih.gov.

    Papers in Europe PMC
  4. 04
    Kanegane H5 papers · 2025

    Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address: hkanegane.ped@tmd.ac.jp.

    Papers in Europe PMC
  5. 05
    Lin JX5 papers · 2019

    Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA. Electronic address: linjx@nhlbi.nih.gov.

    Papers in Europe PMC
  6. 06
    Wang S5 papers · 2026

    Cancer Center, The First Hospital of Jilin University, Changchun 130021 China.

    Papers in Europe PMC
  7. 07
    Morio T4 papers · 2023

    Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Notarangelo LD4 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  9. 09
    Wu X4 papers · 2025

    Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA. forestwu@mail.nih.gov.

    Papers in Europe PMC
  10. 10
    Zhou S4 papers · 2022

    Division of Experimental Hematology, Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).

high confidence · 92.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 observational studies match 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.

Recruiting or not-yet-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 gamma chain deficiency" OR "SCIDX1" OR "T-B+K- severe combined immunodeficiency, X-linked" OR "T-B+NK- SCID due to gamma chain deficiency" OR "T-B+ SCID due to gamma chain deficiency" OR "T-B+ severe combined immunodeficiency due to gamma chain deficiency" OR "T-B+ severe combined immunodeficiency, X-linked" OR "X-linked severe combined immunodeficiency" OR "XSCID" OR "severe combined immunodeficiency, X-linked, X-linked recessive"

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 gamma chain deficiency" OR "SCIDX1" OR "T-B+K- severe combined immunodeficiency, X-linked" OR "T-B+NK- SCID due to gamma chain deficiency" OR "T-B+ SCID due to gamma chain deficiency" OR "T-B+ severe combined immunodeficiency due to gamma chain deficiency" OR "T-B+ severe combined immunodeficiency, X-linked" OR "X-linked severe combined immunodeficiency" OR "XSCID" OR "severe combined immunodeficiency, X-linked, X-linked recessive" OR "IL2RG"

Recall-expansion terms: IL2RG

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

Study-type breakdown: 11 interventional · 3 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

Ingested 2026-07-26T13:10:45.957Z