Living with Combined immunodeficiency due to ZAP70 deficiency
A rare inherited immune condition with serious, repeated infections, diarrhea and slow growth, usually found in infancy.
Understanding Combined immunodeficiency due to ZAP70 deficiency
Children have very little protection from bacteria, viruses and fungi, so infections are repeated and persistent. Infants typically have pneumonia, chronic diarrhea, widespread skin rashes and slow growth. Most are diagnosed in the first 6 months. At least one person was diagnosed later in childhood with milder symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial and viral infections
- Pneumonia
- Chronic diarrhea
- Mouth yeast infection (oral thrush)
- Slow weight gain (failure to thrive)
- Missing or low CD8 T cells
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 ZAP70 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 Jeffrey Modell Foundation and other patient organizations
- 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 ZAP70 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: combined immunodeficiency due to zap70 (zeta-chain associated protein kinase 70) deficiency; combined immunodeficiency due to zeta-chain associated protein kinase 70 deficiency; imd48; immunodeficiency 48; zeta-associated-protein 70 deficiency
Patient organizations
- Jeffrey Modell FoundationCombined immunodeficiency due to ZAP70 deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency due to ZAP70 deficiency.
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