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neutropenia, severe congenital, 2, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutropenia, severe congenital, 2, autosomal dominant

MONDO:0013139

Also known as:GFI1 autosomal dominant severe congenital neutropeniaautosomal dominant severe congenital neutropenia caused by mutation in GFI1neutropenia, severe congenital 2, autosomal dominant

Overview

Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.

GeneticsAutosomal dominant · GFI1 (chr 1)

ResearchLimited published research (6 articles)

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.

Features include: Increased total monocyte count, Decreased total B cell count, and Decreased total neutrophil count.

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).

Neutropenia, severe congenital, 2, autosomal dominant 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

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

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 neutropenia, severe congenital, 2, autosomal dominant.

6 publications have been identified in PubMed for neutropenia, severe congenital, 2, autosomal dominant. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Recent Publications

Sun Y (2026). [PMID: 41560087](https://pubmed.ncbi.nlm.nih.gov/41560087/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
van Bergen T (2026). [PMID: 41056520](https://pubmed.ncbi.nlm.nih.gov/41056520/). *Blood Adv*. [Basic Science / Preclinical]
Kim JM (2026). [PMID: 42040242](https://pubmed.ncbi.nlm.nih.gov/42040242/). *Neurol Genet*. [Case Report / Case Series]
Min KI (2025). [PMID: 40418265](https://pubmed.ncbi.nlm.nih.gov/40418265/). *Blood Res*. [Review / Meta-Analysis]
Marti S (2025). [PMID: 40510848](https://pubmed.ncbi.nlm.nih.gov/40510848/). *Hemasphere*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613107

GARD

Genetic and Rare Diseases Info Center

GARD:15616

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?

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neutropenia, severe congenital, 2, autosomal dominant

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team