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ORPHA:169142

Recurrent infections due to specific granule deficiency

high confidenceDisorder

Also known as: Neutrophil-specific granule deficiency

Publications

219

55.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,153

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare functional neutrophil defect characterized by onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and myelodysplasia. Additional manifestations may include mild to moderate , mild facial features (such as dysplastic ears), and anomalies of bones, teeth, and nails.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

neutrophil-specific granule deficiency · recurrent infection due to specific granule deficiency · specific granule deficiency

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    219 matched papers (86 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Intractable diarrhea; Sepsis; Conical tooth) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0009506

  • Intractable diarrhea
  • Sepsis
  • Conical tooth
  • Amelogenesis imperfecta
  • Thrombocytopenia

Showing 5 of 43 — 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?

219

219 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=3967) is 59.

219 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).

86 in the last 10 years · high confidence · 55.2th percentile (publications denominator)

Phrase hits: 219 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,153

Distinct author names in 200 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.

  1. 01
    Koeffler HP13 papers · 2022

    Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.

    Papers in Europe PMC
  2. 02
    Gallin JI12 papers · 2007

    National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. jig@nih.gov

    Papers in Europe PMC
  3. 03
    Boxer LA9 papers · 2007

    Division of Pediatric Hematology-Oncology, University of Michigan School of Medicine, Ann Arbor.

    Papers in Europe PMC
  4. 04
    Gombart AF9 papers · 2012

    Cedars-Sinai Medical Center, Burns and Allen Research Institute, Division of Hematology/Oncology, UCLA School of Medicine, Los Angeles, CA 90048, USA. gombarta@csmc.edu

    Papers in Europe PMC
  5. 05
    Borregaard N7 papers · 2015

    The Granulocyte Research Laboratory, Department of Hematology, National University Hospital, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  6. 06
    Akagi T5 papers · 2025

    Department of Life, Environment, and Applied Chemistry, Faculty of Engineering, Fukuoka Institute of Technology, Fukuoka, Japan.

    Papers in Europe PMC
  7. 07
    Malech HL5 papers · 2016

    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  8. 08
    Wada T5 papers · 2025

    Department of Pediatrics, School of Medicine Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

    Papers in Europe PMC
  9. 09
    Agematsu K4 papers · 2015

    Department of Infection and Host Defense, Shinshu University Graduate School of Medicine, Matsumoto 390-8621, Japan;

    Papers in Europe PMC
  10. 10
    Arkwright PD4 papers · 2017

    Department of Paediatric Allergy and Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 Recurrent infections due to specific granule deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Recurrent infections due to specific granule deficiency" OR "Neutrophil-specific granule deficiency" OR "recurrent infection due to specific granule deficiency" OR "specific granule deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Specific Granule Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Recurrent infections due to specific granule deficiency" OR "Neutrophil-specific granule deficiency" OR "recurrent infection due to specific granule deficiency" OR "specific granule deficiency"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T08:35:51.370Z