Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review

Jenna K Dick; Christina Boull; Tamara C Pozos; Sheilagh M Maguiness

doi:10.1111/pde.15780

Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review

Pediatr Dermatol. 2024 Oct 18. doi: 10.1111/pde.15780. Online ahead of print.

Authors

Jenna K Dick¹, Christina Boull¹, Tamara C Pozos², Sheilagh M Maguiness¹

Affiliations

¹ Division of Pediatric Dermatology, Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.
² Department of Clinical Immunology, Children's Minnesota, Minneapolis, Minnesota, USA.

PMID: 39420803
DOI: 10.1111/pde.15780

Abstract

Hyperimmunoglobulin E syndrome (HIES) is a group of rare genetic disorders characterized by severe atopic dermatitis and recurrent skin and pulmonary infections. The efficacy of dupilumab in pediatric patients with HIES-associated severe atopic dermatitis is relatively understudied. Here, we present a series of three children with HIES, two with AD-HIES caused by STAT3 mutations, and one with AR-HIES caused by biallelic mutations in ZNF341. In all cases, dupilumab treatment led to sustained clearance of severe atopic dermatitis over multiple years, as well as improvements in systemic symptoms of HIES.

Keywords: STAT3; ZNF341; atopic dermatitis; dupilumab; hyper‐IgE syndrome (HIES).

Publication types

Case Reports