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 — Source fetch failed for trials.
Publications
6,753
Trials
—
Interventional, condition-specific
Researchers
125
Distinct authors in sample
Gene link
IFNGR1
Definitive
Readiness
3/6
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.”
3/6 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
6,753 matched papers (5,117 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Recurrent mycobacterial infections; Osteomyelitis; Salmonella osteomyelitis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
6
Associated phenotypes · MONDO:0014429
- Recurrent mycobacterial infections
- Osteomyelitis
- Salmonella osteomyelitis
- Generalized lymphadenopathy
- Recurrent mycobacterium avium complex infections
Showing 5 of 6 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
6,753
6,753 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.
6,753 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).
5,117 in the last 10 years · low confidence
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 11 September 2026 · last trial check 31 July 2026
low 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.
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 2026-07-30
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 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency — check Associations / patient organisations on that page.
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") OR ("IFNGR1" OR "IFNGR1 syndrome" OR "IFNGR1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
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&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
- Publication count (6753) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:29:50.175Z