Living with Combined immunodeficiency due to DOCK8 deficiency
A rare inherited immune condition with repeated skin, lung and other infections, eczema, allergies and high IgE.
Understanding Combined immunodeficiency due to DOCK8 deficiency
People have severe, repeated infections from bacteria, viruses or fungi, including skin infections and pneumonia. Eczema, allergies and asthma are common, with very high IgE and eosinophils in the blood. Some have nerve or stroke-related problems, and there is a higher risk of blood or skin cancers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated skin infections
- Repeated lung and sinus infections
- Eczema (atopic dermatitis)
- Asthma
- Warts
- Open skin sores
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 DOCK8 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 DOCK8 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cid due to dock8 deficiency; combined immunodeficiency due to dedicator of cytokinesis 8 deficiency; combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; dedicator of cytokinesis 8 deficiency; dock8 deficiency; dock8 immunodeficiency syndrome
Patient organizations
- Jeffrey Modell FoundationCombined immunodeficiency due to DOCK8 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 DOCK8 deficiency.
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