Unusual Presentation of Heterozygous DOCK8 Mutation Found During Work-Up for DRESS
Abstract
Autosomal recessive (AR) Hyper IgE syndrome (HIES) due to dedicator of cytokinesis 8 (DOCK 8) mutation is clinically characterized by elevated immunoglobulin E levels, hypereosinophilia, recurrent infections, atopic dermatitis and food allergies. In order to express the phenotype, an individual must have homozygosity or compound heterozygousin heritance. We present the case of a child with a heterozygous variant of uncertain significance (VUS) of the DOCK8 gene identified during the workup for suspected drug reaction with phenotype of AR.
Document Details
- Document Type
- Technical Report
- Publication Date
- Mar 15, 2022
- Accession Number
- AD1163539
Entities
People
- Karla Adams
- Meredith M. Schuldt
- Priya Nath
Organizations
- 59th Medical Wing