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ORPHA:99749

Kostmann syndrome

low confidenceDisorder

Also known as: Infantile agranulocytosis · Severe congenital neutropenia type 3

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,430

Trials

1

Interventional, condition-specific

Researchers

1,096

Distinct authors in sample

Gene link

HAX1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Kostmann syndrome is a rare, severe, neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and , have been reported in some patients.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

infantile agranulocytosis · neutropenia, severe congenital 3, autosomal recessive · severe congenital neutropenia type 3

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HAX1

  2. LiteraturePresent

    1,430 matched papers (843 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Decreased total neutrophil count; Clumsiness; Myelodysplasia) 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (HAX1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0012548

  • Decreased total neutrophil count
  • Clumsiness
  • Myelodysplasia
  • Intellectual disability

Showing 4 of 12 — 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?

1,430

1,430 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=3967) is 59.

1,430 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).

843 in the last 10 years · low confidence

Phrase hits: 296 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,096

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 K11 papers · 2023

    Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, University Hospital Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  2. 02
    Zeidler C10 papers · 2023

    Medizinische Hochschule, Hannover, Germany. zeidler.cornelia@mh-hannover.de

    Papers in Europe PMC
  3. 03
    Carlsson G7 papers · 2023

    Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden. goran.carlsson@ki.se

    Papers in Europe PMC
  4. 04
    Dale DC6 papers · 2013
    Papers in Europe PMC
  5. 05
    Palmblad J6 papers · 2023

    Karolinska University Hospital, Sweden

    Papers in Europe PMC
  6. 06
    Fadeel B5 papers · 2007
    Papers in Europe PMC
  7. 07
    Henter JI5 papers · 2007
    Papers in Europe PMC
  8. 08
    Corey SJ4 papers · 2020

    Department of Pediatric Hematology/Oncology and Stem Cell Transplantation, Cleveland Clinic, Cleveland, OH 44195, USA.

    Papers in Europe PMC
  9. 09
    Nordenskjöld M4 papers · 2007
    Papers in Europe PMC
  10. 10
    Aprikyan AA3 papers · 2006
    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; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).

Uncertain / not reviewed (3)

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 Kostmann syndrome — 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.

("Kostmann syndrome" OR "Infantile agranulocytosis" OR "Severe congenital neutropenia type 3" OR "neutropenia, severe congenital 3, autosomal recessive") OR (MESH:"Neutropenia, Severe Congenital, Autosomal Recessive 3") OR ("HAX1" OR "HAX1 syndrome" OR "HAX1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neutropenia, Severe Congenital, Autosomal Recessive 3

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

"Kostmann syndrome" OR "Infantile agranulocytosis" OR "Severe congenital neutropenia type 3" OR "neutropenia, severe congenital 3, autosomal recessive" OR "Neutropenia, Severe Congenital, Autosomal Recessive 3"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1430) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T06:15:34.450Z