Living with DOCK2 deficiency
A rare inherited immune condition that starts in infancy with repeated, serious viral and bacterial infections.
Understanding DOCK2 deficiency
Babies and young children with this condition have repeated, serious viral and bacterial infections. Tests show low T and B cell counts, poor antibody response, and low platelets. Infections can include pneumonia, bronchiolitis, ear infections, brain and spinal cord infections, colitis, and diarrhea. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low T cell count
- Repeated pneumonia
- Repeated viral and bacterial infections
- Low platelet count (thrombocytopenia)
- Chronic diarrhea (less common)
- Chronic oral thrush (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 DOCK2 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
GARD says changes in the DOCK2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dedicator of cytokinesis 2 deficiency; immunodeficiency 40; immunodeficiency type 40
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 DOCK2 deficiency.
Explore research for DOCK2 deficiency
Explore actively recruiting DOCK2 deficiency studies with HealthSpark.
Find actively recruiting studies for DOCK2 deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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