pancytopenia due to IKZF1 mutations
Findings
No curated finding names pancytopenia due to IKZF1 mutations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014810), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fetal distressHPOHP:0025116
- 1 of 1 reported patient
- PancytopeniaHPOHP:0001876
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Acute lymphoblastic leukemiaHPOHP:0006721
- 2 of 29 reported patients
- Recurrent fungal infectionsHPOHP:0002841
- 0 of 11 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 0 of 11 reported patients
- Combined immunodeficiencyHPOHP:0005387
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKZF1HGNC:13176
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: pancytopenia due to IKZF1 mutations
- Also called
- Cid due to IKAROS deficiencycombined immunodeficiency due to IKAROS deficiencyCVID13IKZF1 syndrome with combined immunodeficiencyimmunodeficiency, common variable, 13immunodeficiency, common variable, type 13syndrome with combined immunodeficiency caused by mutation in IKZF1