ORPHA:99749
Kostmann syndrome
Also known as: Infantile agranulocytosis · Severe congenital neutropenia type 3
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
296
68.2th percentile
Trials
1
Interventional, condition-specific
Researchers
1,096
Distinct authors in sample
Gene link
HAX1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012548
- MeSH:C537592
- OMIM:610738
- UMLS:C5235141
- NCIT:C166153
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — HAX1
- LiteraturePresent
296 matched papers (110 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 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)
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?
296
296 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.
296 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).
110 in the last 10 years · medium confidence · 68.2th percentile (publications denominator)
Phrase hits: 296 · MeSH hits: 0
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.
- 01Welte K11 papers · 2023
Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, University Hospital Tübingen, Tübingen, Germany.
Papers in Europe PMC - 02Zeidler C10 papers · 2023
Medizinische Hochschule, Hannover, Germany. zeidler.cornelia@mh-hannover.de
Papers in Europe PMC - 03Carlsson 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 - 04Dale DC6 papers · 2013Papers in Europe PMC
- 05
- 06Fadeel B5 papers · 2007Papers in Europe PMC
- 07Henter JI5 papers · 2007Papers in Europe PMC
- 08Corey SJ4 papers · 2020
Department of Pediatric Hematology/Oncology and Stem Cell Transplantation, Cleveland Clinic, Cleveland, OH 44195, USA.
Papers in Europe PMC - 09Nordenskjöld M4 papers · 2007Papers in Europe PMC
- 10Aprikyan AA3 papers · 2006Papers 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 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.
No currently recruiting studies in the matched set. Open the same 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 2026-07-26This 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.
"Kostmann syndrome" OR "Infantile agranulocytosis" OR "Severe congenital neutropenia type 3" OR "neutropenia, severe congenital 3, autosomal recessive"
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" OR "HAX1"
Recall-expansion terms: HAX1
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, recall-expansion; 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
Ingested 2026-07-27T06:15:34.450Z