ORPHA:276
T-B+NK- severe combined immunodeficiency due to gamma chain deficiency
Also known as: SCIDX1 · T-B+K- severe combined immunodeficiency, X-linked · T-B+NK- SCID due to gamma chain deficiency
Publications
12,997
96.9th percentile
Trials
11
Interventional, condition-specific
Researchers
1,448
Distinct authors in sample
Gene link
IL2RG
Definitive
Readiness
6/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010315
- OMIM:300400
- UMLS:C1279481
- NCIT:C4682
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.”
6/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — IL2RG
- LiteraturePresent
12,997 matched papers (9,492 in last 10 years) Source
- Phenotype characterisedPresent
53 HPO annotations (e.g. Decreased circulating IgM concentration; Decreased total T cell count; Decreased circulating IgE concentration) Source
- Animal modelPresent
2 genotype models (Rattus norvegicus) Source
- Orphan designationPartial
2 EMA designations (none yet with FDA orphan-indication approval) — e.g. autologous mobilised peripheral blood-derived CD34+ cells transduced ex vivo with a self-inactivating lentiviral vector containing a normal version of the coding region of the IL2RG gene Source
- 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)
53
Associated phenotypes · MONDO:0010315
- Decreased circulating IgM concentration
- Decreased total T cell count
- Decreased circulating IgE concentration
- Abnormal natural killer cell physiology
- Failure to thrive
Showing 5 of 53 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- F344-Il2rgem2Kyo·RGD:9685748·Rattus norvegicus
- F344-Il2rgem1Kyo·RGD:9685625·Rattus norvegicus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
2
Designations · no FDA orphan-indication approval yet
- EMA autologous mobilised peripheral blood-derived CD34+ cells transduced ex vivo with a self-inactivating lentiviral vector containing a normal version of the coding region of the IL2RG geneTreatment of X-linked severe combined immunodeficiency · 20/05/2021 · WithdrawnEMA designation
- EMA autologous bone marrow derived CD34+ cells transduced ex vivo with a self-inactivating lentiviral vector containing a normal version of the coding region of the IL2RG geneTreatment of X-linked severe combined immunodeficiency · 13/11/2020 · WithdrawnEMA designation
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
3
Drugs / clinical candidates · MONDO_0010315
- BUSULFAN·phase 1 2
- MECASERMIN·phase 1 2
- PALIFERMIN·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
12,997
12,997 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=3967) is 59.
12,997 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
9,492 in the last 10 years · high confidence · 96.9th percentile (publications denominator)
Phrase hits: 1,762 · MeSH hits: 0
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.
- 01De 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 - 02Leonard 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 - 03Malech HL7 papers · 2022
Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA. hmalech@niaid.nih.gov.
Papers in Europe PMC - 04Kanegane 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 - 05Lin 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 - 06Wang S5 papers · 2026
Cancer Center, The First Hospital of Jilin University, Changchun 130021 China.
Papers in Europe PMC - 07Morio 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 - 08Notarangelo LD4 papers · 2026
Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA.
Papers in Europe PMC - 09Wu X4 papers · 2025
Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, 20892, USA. forestwu@mail.nih.gov.
Papers in Europe PMC - 10Zhou 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 11 September 2026 · last trial check 28 July 2026
11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).
high confidence · 92.8th 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.
- NCT01306019·RECRUITING·Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
Not reviewed·Conditions: X-linked Severe Combined Immunodeficiency (XSCID)·Matched via name phrase
- NCT03601286·RECRUITING·Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Not reviewed·Conditions: Severe Combined Immunodeficiency, X-Linked·Matched via name phrase
- NCT06851767·ENROLLING BY INVITATION·Base-Edited Hematopoietic Stem/Progenitor Cell X-Linked Severe Combined Immunodeficiency Gene Therapy
Not reviewed·Conditions: X-linked Severe Combined Immunodeficiency · X-SCID · XSCID·Matched via name phrase
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
- NCT00128973·RECRUITING·Evaluation of Patients With Immune Function Abnormalities
Not reviewed·Conditions: Chronic Granulomatous Disease (CGD) · X-Linked Severe Combined Immune Deficiency (XSCID) · Leukocyte Adhesion Deficiency 1 (LAD) · Graft Versus Host Disease (cGvHD)·Matched via name phrase
- NCT01186913·ENROLLING BY INVITATION·Natural History Study of SCID Disorders
Not reviewed·Conditions: Severe Combined Immunodeficiency (SCID) · Leaky SCID · Omenn Syndrome · Reticular Dysgenesis·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (22)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Authorised, ongoing·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518989-27-01·Cancelled·Treating Leg Symptoms in Women with X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance
skipped — LLM skipped (--skip-llm)
- ctis·2023-509390-23-00·Authorised, ongoing·A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients with X-linked Hypophosphatemia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-514466-38-00·Expired·A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512695-34-00·Cancelled·A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513124-41-00·Cancelled·Influencing Progression of Airway Disease in Primary Antibody Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-512790-27-00·Cancelled·A phase I/II, non randomized, monocentric open-label study of autologous CD34+ cells transduced with the G1XCGD lentiviral vector in patients with X-linked chronic granulomatous disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511411-25-00·Expired·Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene
skipped — LLM skipped (--skip-llm)
- ctis·2024-513774-21-00·Expired·AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-102 TREATMENT ON DISEASE PROGRESSION PRIOR TO HUMAN STEM CELL TRANSPLANT (HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512637-32-00·Expired·ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients
skipped — LLM skipped (--skip-llm)
- ctis·2023-506735-15-00·Cancelled·MT-7117-A-302 Study: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents with Erythropoietic Protoporphyria or X-Linked Protoporphyria
skipped — LLM skipped (--skip-llm)
- ctis·2023-504534-21-00·Cancelled·Open-label extension study with Tadekinig alfa (r-hIL-18BP) to monitor safety and tolerability in patients with IL-18 driven monogenic autoinflammatory conditions: NLRC4 mutation and XIAP deficiency
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for T-B+NK- severe combined immunodeficiency due to gamma chain deficiency — check Associations / patient organisations on that page.
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 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" OR "IL2RG syndrome" OR "IL2RG-related")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"
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: ok — strategies attempted: phrase; 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