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ORPHA:2686

Cyclic neutropenia

medium confidenceDisorder

Publications

1,582

90.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,061

Distinct authors in sample

Gene link

ELANE

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

CH · CN · cyclic agranulocytosis · cyclic hematopoiesis · dysplasia, myelocytic periodic · neutropenia, cyclic · periodic neutropenia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — ELANE

  2. LiteraturePresent

    1,582 matched papers (560 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (ELANE).

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?

1,582

1,582 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,582 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).

560 in the last 10 years · medium confidence · 90.9th percentile (publications denominator)

Phrase hits: 1,582 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,061

Distinct author names in 200 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.

  1. 01
    Welte K9 papers · 2026

    Molecular Hematopoiesis, Hannover Medical School, Germany.

    Papers in Europe PMC
  2. 02
    Skokowa J8 papers · 2026

    Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tuebingen, Germany.

    Papers in Europe PMC
  3. 03
    Zeidler C8 papers · 2026

    Molecular Hematopoiesis, Hannover Medical School, Germany zeidler.cornelia@mh-hannover.de.

    Papers in Europe PMC
  4. 04
    Dale DC7 papers · 2025

    University of Washington, Seattle, WA dcdale@uw.edu.

    Papers in Europe PMC
  5. 05
    Janczar S5 papers · 2026

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC
  6. 06
    Klimiankou M5 papers · 2026

    Department of Hematology, Oncology, Clinical Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Liu L5 papers · 2026

    Department of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Corey SJ4 papers · 2024

    Department of Cancer Biology, Cleveland Clinic, Cleveland, Ohio, USA.

    Papers in Europe PMC
  9. 09
    Li Y4 papers · 2025

    Department of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Madzio J4 papers · 2025

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 326 trials are registered for neutropenia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: neutropenia

326

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Cyclic neutropenia" OR "cyclic agranulocytosis" OR "cyclic hematopoiesis" OR "dysplasia, myelocytic periodic" OR "neutropenia, cyclic" OR "periodic neutropenia"

Run this search on Europe PMC

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

"Cyclic neutropenia" OR "cyclic agranulocytosis" OR "cyclic hematopoiesis" OR "dysplasia, myelocytic periodic" OR "neutropenia, cyclic" OR "periodic neutropenia" OR "ELANE"

Recall-expansion terms: ELANE

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neutropenia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CH; CN

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T20:51:09.085Z