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ORPHA:275

T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency

low confidenceDisorder

Also known as: SCID T-B-NK+ due to ARTEMIS deficiency · SCID T-B-NK+ due to DCLRE1C deficiency · SCID T-B-NK+, Athabascan type · SCID T-B-NK+, Athabaskan type · T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency · T-B-NK+ severe combined immunodeficiency, Athabascan type · T-B-NK+ severe combined immunodeficiency, Athabaskan type

Publications

1,167

Trials

0

Interventional, condition-specific

Researchers

43

Distinct authors in sample

Gene link

DCLRE1C

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, , and cell sensitivity to ionizing radiation.

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 (10)

DCLRE1C severe combined immunodeficiency (disease) · SCID due to ARTEMIS deficiency · SCID due to DCLRE1C deficiency · SCID due to artemis deficiency · SCID, Athabascan type · SCID, Athabaskan type · severe combined immunodeficiency (disease) caused by mutation in DCLRE1C · severe combined immunodeficiency due to ARTEMIS deficiency · severe combined immunodeficiency due to DCLRE1C deficiency · severe combined immunodeficiency due to artemis 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — DCLRE1C

  2. LiteraturePresent

    1,167 matched papers (785 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Hepatomegaly; Abnormally low T cell receptor excision circle level; Failure to thrive) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Yes — we know a specific gene responsible (DCLRE1C).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

52

Associated phenotypes · MONDO:0011225

  • Hepatomegaly
  • Abnormally low T cell receptor excision circle level
  • Failure to thrive
  • Splenomegaly
  • Increased total eosinophil count

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,167

1,167 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=3967) is 59.

1,167 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).

785 in the last 10 years · low confidence

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

43

Distinct author names in 5 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
    Cowan MJ2 papers · 2015

    505 Parnassus Ave, Room M-659, San Francisco, CA 94143, Office: (415) 476-2188, Fax:

    Papers in Europe PMC
  2. 02
    Bąbol-Pokora K1 paper · 2022

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC
  3. 03
    Bakaros E1 paper · 2025

    Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.

    Papers in Europe PMC
  4. 04
    Bangeas A1 paper · 2025

    Pediatric Immunology and Rheumatology Referral Centre, First Department of Pediatrics, Aristotle University, "Hippokration" General Hospital, 54642 Thessaloniki, Greece.

    Papers in Europe PMC
  5. 05
    Bernat-Sitarz K1 paper · 2022

    Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Cajander S1 paper · 2026

    Department of Infectious Diseases, Faculty of Medicine and Health, Örebro University Hospital, Örebro, Sweden.

    Papers in Europe PMC
  7. 07
    Charisi K1 paper · 2025

    Pediatric Immunology and Rheumatology Referral Centre, First Department of Pediatrics, Aristotle University, "Hippokration" General Hospital, 54642 Thessaloniki, Greece.

    Papers in Europe PMC
  8. 08
    Dabrowska-Leonik N1 paper · 2022

    Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.

    Papers in Europe PMC
  9. 09
    Dvorak CC1 paper · 2015

    505 Parnassus Ave, Room M-659, San Francisco, CA 94143, Office: (415) 476-2188, Fax:

    Papers in Europe PMC
  10. 10
    Erikson E1 paper · 2026

    Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Huddinge, Sweden.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 DCLRE1C deficiency — check Associations / patient organisations on that page.

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 DCLRE1C deficiency" OR "SCID T-B-NK+ due to ARTEMIS deficiency" OR "SCID T-B-NK+ due to DCLRE1C deficiency" OR "SCID T-B-NK+, Athabascan type" OR "SCID T-B-NK+, Athabaskan type" OR "T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency" OR "T-B-NK+ severe combined immunodeficiency, Athabascan type" OR "T-B-NK+ severe combined immunodeficiency, Athabaskan type" OR "DCLRE1C severe combined immunodeficiency (disease)" OR "SCID due to ARTEMIS deficiency" OR "SCID due to DCLRE1C deficiency" OR "SCID, Athabascan type" OR "SCID, Athabaskan type" OR "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" OR "severe combined immunodeficiency due to ARTEMIS deficiency" OR "severe combined immunodeficiency due to DCLRE1C deficiency") OR ("DCLRE1C" OR "DCLRE1C syndrome" OR "DCLRE1C-related")

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 DCLRE1C deficiency" OR "SCID T-B-NK+ due to ARTEMIS deficiency" OR "SCID T-B-NK+ due to DCLRE1C deficiency" OR "SCID T-B-NK+, Athabascan type" OR "SCID T-B-NK+, Athabaskan type" OR "T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency" OR "T-B-NK+ severe combined immunodeficiency, Athabascan type" OR "T-B-NK+ severe combined immunodeficiency, Athabaskan type" OR "DCLRE1C severe combined immunodeficiency (disease)" OR "SCID due to ARTEMIS deficiency" OR "SCID due to DCLRE1C deficiency" OR "SCID, Athabascan type" OR "SCID, Athabaskan type" OR "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" OR "severe combined immunodeficiency due to ARTEMIS deficiency" OR "severe combined immunodeficiency due to DCLRE1C deficiency"

Study-type breakdown: 0 interventional · 1 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
  • Publication count (1167) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:10:27.699Z