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ORPHA:275

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

high 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

5

15.2th percentile

Trials

1

Interventional, condition-specific

Researchers

43

Distinct authors in sample

Gene link

DCLRE1C

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DCLRE1C

  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

    1 matched on ClinicalTrials.gov (1 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 (DCLRE1C).

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?

43

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
    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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 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"

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" OR "DCLRE1C"

Recall-expansion terms: DCLRE1C

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: 1 interventional · 1 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 2026-07-26T13:10:27.699Z