Living with Pancytopenia due to IKZF1 mutations
A rare inherited immune condition with low blood cell counts and, in some people, repeated bacterial infections.
Understanding Pancytopenia due to IKZF1 mutations
It is a combined immunodeficiency, which means the immune system doesn't work fully. People can have no symptoms or have repeated bacterial infections with falling antibody and B cell levels. It can appear at a variety of ages. Low blood counts of all types (pancytopenia) are part of the condition.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood cell counts (pancytopenia)
- Extra amniotic fluid during pregnancy (polyhydramnios)
- Fetal distress
- Repeated bacterial infections (less common)
- Low B cell count (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in IKZF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the IKZF1 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: cid due to ikaros deficiency; combined immunodeficiency due to ikaros deficiency; cvid13; ikzf1 syndrome with combined immunodeficiency; immunodeficiency, common variable, 13; immunodeficiency, common variable, type 13
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pancytopenia due to IKZF1 mutations.
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