ORPHA:675628
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
Also known as: INFLTR8 · Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
14
32th percentile
Trials
—
Interventional, condition-specific
Researchers
116
Distinct authors in sample
Gene link
TLR8
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0024777
- OMIM:301078
- UMLS:C5676883
Additional Mondo synonyms (4)
IMD98 · X-linked immunodeficiency with autoinflammation · immunodeficiency 98 with autoinflammation, X-linked · inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8
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
Strong — TLR8
- LiteraturePresent
14 matched papers (14 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 (TLR8).
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?
14
14 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.
14 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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 14 · MeSH hits: 0
Who's working on it?
116
Distinct author names in 14 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.
- 01
- 02
- 03Rao VK3 papers · 2026
Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and.
Papers in Europe PMC - 04
- 05Schmitz EG3 papers · 2026
Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo.
Papers in Europe PMC - 06Bednarski JJ2 papers · 2026
Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC - 07Bleesing JJ2 papers · 2026
Division of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Papers in Europe PMC - 08Connelly JA2 papers · 2026
Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN.
Papers in Europe PMC - 09De Ravin SS2 papers · 2026
Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and.
Papers in Europe PMC - 10Goldbach-Mansky R2 papers · 2026
Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
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.
"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome" OR "INFLTR8" OR "Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome" OR "IMD98" OR "X-linked immunodeficiency with autoinflammation" OR "immunodeficiency 98 with autoinflammation, X-linked" OR "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: TLR8
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=%22TLR8-related%20inflammation-severe%20neutropenia-bone%20marrow%20failure-lymphoproliferation%20syndrome%22%20OR%20%22INFLTR8%22%20OR%20%22Toll-like%20receptor%208-associated%20inflammation-severe%20neutropenia-bone%20marrow%20failure-lymphoproliferation%20syndrome%22%20OR%20%22IMD98%22%20OR%20%22X-linked%20immunodeficiency%20with%20autoinflammation%22%20OR%20%22immunodeficiency%2098%20with%20autoinflammation%2C%20X-linked%22%20OR%20%22inflammation%2C%20neutropenia%2C%20bone%20marrow%20failure%2C%20and%20lymphoproliferation%20caused%20by%20TLR8%22%20OR%20%22TLR8%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 2026-07-27T20:24:15.573Z