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constitutional neutropenia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

constitutional neutropenia

MONDO:0015134

Also known as:congenital neutropeniagenetic infantile agranulocytosisinfantile genetic agranulocytosis

Find Clinical TrialsTrials

Overview

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.

OnsetJUVENILE, CHILDHOOD, CONGENITAL

Clinical Trials7 registered · 4 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: adolescence, childhood, at birth.

GeneReviews

Clinical Guidance

Congenital Neutropenia

Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In both conditions, individuals have fever and recurrent skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, pharyngitis, and cervical adenopathy). In congenital neutropenia, diarrhea, pneumonia, and deep abscesses in the liver, lung, and subcutaneous tissues are common. Omphalitis immediately after birth may be the first sign . Bacteremia occurs infrequently but has severe consequences in affected individuals. Most congenital neutropenia is diagnosed because of fever and severe infection in infants and young children.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

ELANE-related neutropenia represents a clinical spectrum that includes congenital neutropenia, cyclic neutropenia, and intermediate findings between these two phenotypes. Identification of the precise clinical phenotype is helpful for diagnosis, prognosis, and management.

Suggestive Findings

ELANE-related neutropenia should be suspected in individuals with the following clinical and supportive laboratory findings.

Clinical features

• Severe or recurrent infections

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for constitutional neutropenia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with ELANE-related neutropenia, the following are recommended if they have not already been completed:

Dental examination for gingival and periodontal disease

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

For those individuals with congenital neutropenia not undergoing HSCT, surveillance for evidence of malignant transformation to MDS/AML is critical to allow early therapeutic intervention. Observation should include the following:

General evaluations by parents and medical personnel several times a year
Blood counts several times a year

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.

7 clinical trials registered, 4 recruiting. Interventions under study include drug therapy, other interventions, medical devices, and biologic therapy. Pipeline includes 1 PHASE3, 2 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06999954](https://clinicaltrials.gov/study/NCT06999954)

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101987

GARD

Genetic and Rare Diseases Info Center

GARD:19809

Questions for Your Care Team

→Are any of the 7 active clinical trials a good fit for my situation?
→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

Research Type	Count	% of Total
Patient case studies	24	28%
Research summaries	22	25%
Laboratory research	18	21%
Disease patterns and progression	7	8%
Other research	6	7%
Testing and diagnosis research	4	5%
New treatment approaches	4	5%
Clinical study results	2	2%

Kisho

constitutional neutropenia

Overview

Clinical Presentation

Clinical Guidance

Congenital Neutropenia

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Congenital Neutropenia

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

constitutional neutropenia

Overview

Clinical Presentation

Clinical Guidance

Congenital Neutropenia

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Congenital Neutropenia

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications