ORPHA:319581
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Also known as: Autosomal dominant MSMD due to partial IFNgammaR1 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency · Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
10
27.5th percentile
Trials
—
Interventional, condition-specific
Researchers
125
Distinct authors in sample
Gene link
IFNGR1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
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:0014429
- OMIM:615978
- UMLS:C4014863
Additional Mondo synonyms (11)
IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency · IFNGR1 deficiency, autosomal dominant · IMD27B · autosomal dominant MSMD due to partial IFNgammaR1 deficiency · autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency · autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1 · autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency · immunodeficiency 27B · immunodeficiency 27B, Mycobacteriosis, autosomal dominant · immunodeficiency 27B, mycobacteriosis, AD · immunodeficiency type 27B
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — IFNGR1
- LiteraturePresent
10 matched papers (10 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 checked
Trial fetch failed or incomplete
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 (IFNGR1).
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?
10
10 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.
10 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
125
Distinct author names in 10 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.
- 01Abdelmogeit SE1 paper · 2025
Department of Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Papers in Europe PMC - 02Alasmari BG1 paper · 2025
Department of Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Papers in Europe PMC - 03Albishri A1 paper · 2025
Department of Pediatrics, Pediatrics Infecious Disease, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Papers in Europe PMC - 04Almusdi MM1 paper · 2025
Pediatric Intensive Care Unit, Khamis Mushait Maternity and Children Hospital, Khamis Mushait, SAU.
Papers in Europe PMC - 05Alqahtani JA1 paper · 2025
Department of Pediatric Medicine, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Papers in Europe PMC - 06Alquraishi AS1 paper · 2025
Department of Pediatrics, Endocrinology Unit, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Papers in Europe PMC - 07Alyasin S1 paper · 2023
Division of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Papers in Europe PMC - 08Amanati A1 paper · 2023
Division of Infectious Diseases, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Papers in Europe PMC - 09Ansari AR1 paper · 2017
Department of Basic Veterinary Medicine, College of Animal Science and Veterinary Medicine, Huazhong Agricultural University, Wuhan, Hubei, China.
Papers in Europe PMC - 10Askarisarvestani A1 paper · 2023
Division of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Askariaida@gmail.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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.
"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" OR "Autosomal dominant MSMD due to partial IFNgammaR1 deficiency" OR "Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" OR "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" OR "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" OR "IFNGR1 deficiency, autosomal dominant" OR "IMD27B" OR "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" OR "immunodeficiency 27B" OR "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" OR "immunodeficiency 27B, mycobacteriosis, AD" OR "immunodeficiency type 27B"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: IFNGR1, inherited susceptibility to mycobacterial diseases, inherited disease susceptibility
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Autosomal%20dominant%20mendelian%20susceptibility%20to%20mycobacterial%20diseases%20due%20to%20partial%20IFNgammaR1%20deficiency%22%20OR%20%22Autosomal%20dominant%20MSMD%20due%20to%20partial%20IFNgammaR1%20deficiency%22%20OR%20%22Autosomal%20dominant%20MSMD%20due%20to%20partial%20interferon%20gamma%20receptor%201%20deficiency%22%20OR%20%22Autosomal%20dominant%20mendelian%20susceptibility%20to%20mycobacterial%20diseases%20due%20to%20partial%20interferon%20gamma%20receptor%201%20deficiency%22%20OR%20%22IFNGR1%20autosomal%20dominant%20mendelian%20susceptibility%20to%20mycobacterial%20diseases%20due%20to%20a%20partial%20deficiency%22%20OR%20%22IFNGR1%20deficiency%2C%20autosomal%20dominant%22%20OR%20%22IMD27B%22%20OR%20%22autosomal%20dominant%20mendelian%20susceptibility%20to%20mycobacterial%20diseases%20due%20to%20a%20partial%20deficiency%20caused%20by%20mutation%20in%20IFNGR1%22%20OR%20%22immunodeficiency%2027B%22%20OR%20%22immunodeficiency%2027B%2C%20Mycobacteriosis%2C%20autosomal%20dominant%22%20OR%20%22immunodeficiency%2027B%2C%20mycobacteriosis%2C%20AD%22%20OR%20%22immunodeficiency%20type%2027B%22%20OR%20%22IFNGR1%22%20OR%20%22inherited%20susceptibility%20to%20mycobacterial%20diseases%22%20OR%20%22inherited%20disease%20susceptibility%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T13:29:50.175Z