Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

MONDO:0018487

Overview

ResearchLimited published research (5 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive severe congenital neutropenia due to CXCR2 deficiency.

5 publications have been identified in PubMed for autosomal recessive severe congenital neutropenia due to CXCR2 deficiency. Research spans Review / Meta-Analysis (20%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).

Recent Publications

Hinke DM (2026). [PMID: 40874343](https://pubmed.ncbi.nlm.nih.gov/40874343/). *Haematologica*. [Gene Therapy / Novel Therapeutics]
Fekadu-Siebald J (2025). [PMID: 39775668](https://pubmed.ncbi.nlm.nih.gov/39775668/). *Blood advances*. [Clinical Trial Publication]
Marti S (2025). [PMID: 40510848](https://pubmed.ncbi.nlm.nih.gov/40510848/). *HemaSphere*. [Epidemiology / Natural History]
Fonseca M (2025). [PMID: 40698220](https://pubmed.ncbi.nlm.nih.gov/40698220/). *Cureus*. [Case Report / Case Series]
Katsaras G (2024). [PMID: 38921186](https://pubmed.ncbi.nlm.nih.gov/38921186/). *Hematology reports*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:420699

GARD

Genetic and Rare Diseases Info Center

GARD:21747

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team