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

nonimmune chronic idiopathic neutropenia of adults - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nonimmune chronic idiopathic neutropenia of adults

MONDO:0011922

Also known as:NI-CINAadult idiopathic neutropenianeutropenia, nonimmune chronic idiopathic, of adults

Overview

GeneticsAutosomal dominant · GFI1 (chr 1)

Clinical Presentation

Features include sometimes findings: Acute myeloid leukemia. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Decreased total neutrophil count

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GFI1 encodes growth factor independent 1 transcriptional repressor (422 aa). Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Highest expression in Cells EBV-transformed lymphocytes (12.6 TPM) and Spleen (9.7 TPM).

Nonimmune chronic idiopathic neutropenia of adults is associated with mutations in the GFI1 gene on chromosome 1.

The GFI1 protein participates in GFI1 gene expression is enhanced by CEBPA, RUNX2 gene expression from distal (P1) promoter is inhibited by NKX3-2, MSX2 and RUNX2-P1, and stimulated by DLX5,(DLX6), and Transcriptional regulation of granulopoiesis pathways.

GFI1 is classified as a druggable target with score 0.0.

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.

Genetic testing for GFI1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nonimmune chronic idiopathic neutropenia of adults has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 nonimmune chronic idiopathic neutropenia of adults.

28 publications have been identified in PubMed for nonimmune chronic idiopathic neutropenia of adults. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	7	27%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607847

Orphanet

European rare disease database

Orphanet:2688

GARD

Genetic and Rare Diseases Info Center

GARD:16605

Questions for Your Care Team

→Should I pursue genetic testing for GFI1, and what would the results mean for my family?
→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

nonimmune chronic idiopathic neutropenia of adults

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications