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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
PubMed
Summary
This summary is machine-generated.

DOCK8 deficiency, a combined immunodeficiency, causes severe skin issues and infections. Hematopoietic stem cell transplantation offers a cure, though allergies may remain.

Keywords:
DOCK8 deficiencyactinopathiesallergyhaematopoietic stem cell transplantationtregopathies

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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.