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DOCK8 deficiency.
Andrew R Gennery1,2, Michael H Albert3
1Translational and Clinical Research Institute, Newcastle University.
Current Opinion in Allergy and Clinical Immunology
|October 29, 2025
Summary
DOCK8 deficiency, a combined immunodeficiency, causes severe skin issues and infections. Hematopoietic stem cell transplantation offers a cure, though allergies may remain.
Area of Science:
- Immunology
- Genetics
- Dermatology
Background:
- DOCK8 deficiency, previously classified as hyper IgE syndrome, is now understood as a combined immunodeficiency.
- It presents with significant dermatological manifestations, linking it to actinopathies and Tregopathies.
Purpose of the Study:
- To review the overlap between DOCK8 deficiency, actinopathies, and Tregopathies.
- To summarize current treatment strategies and outcomes for DOCK8 deficiency.
Main Methods:
- Literature review focusing on DOCK8 deficiency, actin defects, and regulatory T cell (Treg) function.
- Analysis of clinical data and treatment outcomes, including hematopoietic stem cell transplantation (HSCT).
Main Results:
- Dermatological infections and inflammation are primary features, linked to actin defects causing persistent viral infections.
- Reduced regulatory T lymphocyte number and function in the skin contribute to inflammation, potentially treatable with dupilumab.
- Hematopoietic stem cell transplantation (HSCT) outcomes show significant symptom resolution.
Conclusions:
- DOCK8 deficiency is a severe inborn error of immunity with Tregopathy and actinopathy features.
- HSCT is a curative treatment, effectively resolving most symptoms, but allergic issues may persist.
- Understanding the interplay of actin regulation, Treg function, and STAT3 signaling is crucial for managing DOCK8 deficiency.
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