Inherited immune disorders
Combined immunodeficiency due to DOCK8 deficiency
DOCK8 deficiency is a genetic combined immune disorder associated with recurrent infections, severe viral skin infections, eczema and allergic disease. Some affected people also develop malignancy.
Other names and abbreviations
DOCK8 deficiency · DOCK8-CID · HIES2 · AR-HIES · primary immunodeficiency · hyper IgE syndrome · DOCK8 immunodeficiency syndrome · Autosomal recessive hyper-IgE syndrome
Where transplant fits
Allogeneic transplantation is an established disease-correcting treatment for the immune defect. Suitable related or unrelated donors can be used, with timing and conditioning tailored to infections and organ health.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Usually recognized in childhood, in people with disease-causing variants in both copies of DOCK8.
- Other treatment options
- Antimicrobial prevention and treatment, immunoglobulin replacement when indicated, and eczema and allergy care support health before and after definitive treatment.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
The historic term autosomal-recessive hyper-IgE syndrome is broader than DOCK8 deficiency. Allergy or other established complications may persist after immune reconstitution.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021 - Inborn Errors of Immunity
EBMT Handbook · 2024-04-11
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
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