ORPHA:169142
Recurrent infections due to specific granule deficiency
Also known as: Neutrophil-specific granule deficiency
Publications
219
63.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,153
Distinct authors in sample
Gene link
—
Readiness
1/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009506
- MeSH:C562873
- UMLS:C0398593
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
219 matched papers (86 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 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)
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?
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=5449) is 41.
219 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).
86 in the last 10 years · high confidence · 63.9th percentile (publications denominator)
Phrase hits: 219 · MeSH hits: 4
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.
- 01Koeffler HP13 papers · 2022
Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.
Papers in Europe PMC - 02Gallin JI12 papers · 2007
National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. jig@nih.gov
Papers in Europe PMC - 03Boxer LA9 papers · 2007
Division of Pediatric Hematology-Oncology, University of Michigan School of Medicine, Ann Arbor.
Papers in Europe PMC - 04Gombart 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 - 05Borregaard N7 papers · 2015
The Granulocyte Research Laboratory, Department of Hematology, National University Hospital, University of Copenhagen, Copenhagen, Denmark.
Papers in Europe PMC - 06Akagi T5 papers · 2025
Department of Life, Environment, and Applied Chemistry, Faculty of Engineering, Fukuoka Institute of Technology, Fukuoka, Japan.
Papers in Europe PMC - 07Malech HL5 papers · 2016
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 08Wada T5 papers · 2025
Department of Pediatrics, School of Medicine Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
Papers in Europe PMC - 09Agematsu K4 papers · 2015
Department of Infection and Host Defense, Shinshu University Graduate School of Medicine, Matsumoto 390-8621, Japan;
Papers in Europe PMC - 10Arkwright 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Recurrent infections due to specific granule deficiency" OR "Neutrophil-specific granule deficiency" OR "recurrent infection due to specific granule deficiency" OR "specific granule deficiency"
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