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 — Source fetch failed for trials.
Publications
13,820
Trials
—
Interventional, condition-specific
Researchers
116
Distinct authors in sample
Gene link
TLR8
Strong
Readiness
3/6
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.”
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
Strong — TLR8
- LiteraturePresent
13,820 matched papers (9,458 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Antineutrophil antibody positivity; Hemophagocytosis; Growth delay) 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 (TLR8).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
20
Associated phenotypes · MONDO:0024777
- Antineutrophil antibody positivity
- Hemophagocytosis
- Growth delay
- Thrombocytopenia
- Splenomegaly
Showing 5 of 20 — 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?
13,820
13,820 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.
13,820 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).
9,458 in the last 10 years · low confidence
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 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 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome — 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.
("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") OR ("TLR8" OR "TLR8 syndrome" OR "TLR8-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"
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=%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&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 (13820) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T20:24:15.573Z