Rare Pediatric Case of DOCK8 Deficiency Presenting with IgG4-Related Disease: Diagnostic and Therapeutic Challenges
Abstract
Autosomal recessive hyper IgE syndrome (AR-HIES), resulting from biallelic mutations in the DOCK8 gene, is a rare primary immunodeficiency characterized by extreme elevations in serum IgE, recurrent cutaneous and respiratory infections, severe allergic inflammation, and susceptibility to viral pathogens such as herpesviruses and human papillomaviruses. Patients often exhibit profound T-cell defects, hypereosinophilia, and mucocutaneous involvement. While immune dysregulation is well-documented in DOCK8 deficiency, the development of IgG4-related disease (IgG4-RD), a fibroinflammatory condition marked by IgG4-positive plasma cell infiltration, has not been previously described in this context.
Fields of Study & Subjects
Immunodeficiency and Autoimmune Disorders
IgG4-Related and Inflammatory Diseases
Histiocytic Disorders and Treatments
Publication details
- Journal / source
- World Allergy Organization Journal
- Volume
- 19
- Issue
- 2
- Pages
- 101295–101295
- Publication date
- 1 February 2026
- Language
- EN