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pancytopenia due to IKZF1 mutations - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pancytopenia due to IKZF1 mutations

MONDO:0014810

Also known as:CVID13Cid due to IKAROS deficiencyIKZF1 syndrome with combined immunodeficiency

Overview

Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.

GeneticsAutosomal dominant · IKZF1 (chr 7)

ResearchLimited published research (3 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 always present findings: Polyhydramnios, Fetal distress, and Low blood cell counts (all types) (pancytopenia); and sometimes findings: Acute lymphoblastic leukemia. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Combined immunodeficiency, Recurrent bacterial infections, Recurrent viral infections

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.

IKZF1 encodes IKAROS family zinc finger 1 (519 aa). Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Plays a role in the development of lymphocytes, B- and T-cells. Highest expression in Spleen (34.7 TPM) and Whole Blood (30.1 TPM).

Pancytopenia due to IKZF1 mutations is caused by mutations in the IKZF1 gene on chromosome 7.

The IKZF1 protein participates in PTCRA gene expression is stimulated by NOTCH3 and inhibited by IK1 and NOTCH3 Intracellular Domain Regulates Transcription pathways.

IKZF1 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.3.

Diagnosis

Genetic testing for IKZF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancytopenia due to IKZF1 mutations has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

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 pancytopenia due to IKZF1 mutations.

3 publications have been identified in PubMed for pancytopenia due to IKZF1 mutations. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Yamashita M (2025). [PMID: 42169761](https://pubmed.ncbi.nlm.nih.gov/42169761/). *J Hum Immun*. [Review / Meta-Analysis]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]
García-Solís B (2024). [PMID: 38579942](https://pubmed.ncbi.nlm.nih.gov/38579942/). *J Allergy Clin Immunol*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616873

Orphanet

European rare disease database

Orphanet:317473

GARD

Genetic and Rare Diseases Info Center

GARD:17442

Questions for Your Care Team

→Should I pursue genetic testing for IKZF1, 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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pancytopenia due to IKZF1 mutations

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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