ORPHA:477857
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Also known as: MSMD due to complete RORgamma receptor defiency · Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency · Primary immunodeficiency due to RORC mutation
Publications
58
50.8th percentile
Trials
0
Interventional, condition-specific
Researchers
492
Distinct authors in sample
Gene link
RORC
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable . The immunological comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014710
- OMIM:616622
- UMLS:C5567647
Additional Mondo synonyms (5)
IMD42 · RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency · autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC · immunodeficiency 42 · immunodeficiency type 42
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — RORC
- LiteraturePresent
58 matched papers (43 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (RORC).
GenCC classification: Strong.
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?
58
58 papers have ever been published on this condition (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.
58 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).
43 in the last 10 years · high confidence · 50.8th percentile (publications denominator)
Phrase hits: 58 · MeSH hits: 0
Who's working on it?
492
Distinct author names in 58 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.
- 01Li H3 papers · 2024
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 02Han R2 papers · 2023
Department of Chemistry, University of Manitoba, Winnipeg, Manitoba, Canada.
Papers in Europe PMC - 03Moser O2 papers · 2024
University Hospital RWTH Aachen, Department of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Aachen, Germany. omoser@ukaachen.de.
Papers in Europe PMC - 04Wong PK2 papers · 1992Papers in Europe PMC
- 05Xu J2 papers · 2022
Indiana University School of Medicine, Wells Center for Pediatric Research, Indianapolis, Indiana, USA.
Papers in Europe PMC - 06Zhang G2 papers · 2024
Department of Respiratory Medicine, The First Affiliated Hospital of Zhengzhou University, No.1, Jianshe East Road, Zhengzhou, 450052 Henan People's Republic of China.
Papers in Europe PMC - 07Zhang L2 papers · 2022
Department of Critical Care Medicine, Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, China.
Papers in Europe PMC - 08Abdul Aziz Z1 paper · 2024
Clinical Research Centre, Hospital Sultanah Nur Zahirah, Terengganu, MYS.
Papers in Europe PMC - 09Abou-Bacar A1 paper · 2018
Institute of Parasitology and Tropical Diseases, EA 7292, University of Strasbourg, 3 rue Koeberlé, Strasbourg, France.
Papers in Europe PMC - 10Abraham KJ1 paper · 2025
Department of Computer Science, Institute of Mathematics and Computer Science, University of São Paulo, São Carlos 13566-590, SP, Brazil.
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.
high 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.
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" OR "MSMD due to complete RORgamma receptor defiency" OR "Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency" OR "Primary immunodeficiency due to RORC mutation" OR "IMD42" OR "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" OR "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC" OR "immunodeficiency 42" OR "immunodeficiency type 42"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" OR "MSMD due to complete RORgamma receptor defiency" OR "Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency" OR "Primary immunodeficiency due to RORC mutation" OR "IMD42" OR "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" OR "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC" OR "immunodeficiency 42" OR "immunodeficiency type 42" OR "RORC" OR "inherited susceptibility to mycobacterial diseases" OR "inherited disease susceptibility"
Recall-expansion terms: RORC, inherited susceptibility to mycobacterial diseases, inherited disease susceptibility
Study-type breakdown: 0 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 2026-07-27T17:09:52.970Z