Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Nov;39(6):940-942.
doi: 10.1111/pde.15072. Epub 2022 Jun 22.

Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab

Aman Nihal  1 , Jeanette R Comstock  1 , Kristen E Holland  2 , Anne Marie Singh  1   3 , Christine M Seroogy  3 , Lisa M Arkin  1
Affiliations
Case Reports

Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab

Aman Nihal et al. Pediatr Dermatol. 2022 Nov.

Abstract

Hyper-IgE syndromes (HIES) are a heterogeneous group of rare primary immunodeficiency diseases classically characterized by the triad of atopic dermatitis, and recurrent cutaneous and pulmonary infections. Autosomal dominant, loss-of-function STAT3 pathogenic variants are the most common genetic cause, which lead to deficiency of Th17 lymphocytes, impaired interferon gamma production, and IL-10 signal transduction, and an unbalanced IL-4 state. Dupilumab, a monoclonal antibody to the IL-4a receptor, inhibits both IL-4 and IL-13, and has been shown to improve atopic dermatitis and other manifestations of HIES including asthma and allergic bronchopulmonary aspergillosis. We present a pediatric patient with HIES who presented predominantly with eosinophilic folliculitis, recurrent cutaneous infections, and other non-eczematous findings and achieved sustained clearance with dupilumab.

Keywords: atopic dermatitis; dupilumab; eczema; genetic syndromes; hyper-IgE syndrome.

PubMed Disclaimer

Conflict of interest statement

Kristen E. Holland served as an investigator for Pfizer, Amgen, Incyte, Abbvie, and Sanofi. Abbvie also provides spouse salary. Anne Marie Singh has consulted for Abbvie and currently serves on the data monitoring board for Siolta Therapeutics. She receives research funding from the NIH. Lisa M. Arkin has consulted for Abbvie and Regeneron. The remaining authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Skin findings at time of initial presentation
FIGURE 2
FIGURE 2
Biopsy demonstrating a superficial and deep perivascular, periadnexal interstitial infiltrate with eosinophils
FIGURE 3
FIGURE 3
Painful yellow crusting of nasolabial folds and bilateral inner canthus of the eyes
FIGURE 4
FIGURE 4
Skin improvement after 6 months of dupilumab treatment
See this image and copyright information in PMC

References

    1. Igelman S, Kurta AO, Sheikh U, et al. Off‐label use of dupilumab for pediatric patients with atopic dermatitis: a multicenter retrospective review. J Am Acad Dermatol. 2020;82(2):407‐411. doi:10.1016/j.jaad.2019.10.010 - DOI - PubMed
    1. Al‐Shaikhly T, Ochs HD. Hyper IgE syndromes: clinical and molecular characteristics. Immunol Cell Biol. 2018;97(4):368‐379. doi:10.1111/imcb.12209 - DOI - PubMed
    1. Hafsi W, Yarrarapu SNS. Job Syndrome. StatPearls Publishing; 2021. - PubMed
    1. Minegishi Y, Saito M, Tsuchiya S, et al. Dominant‐negative mutations in the DNA‐binding domain of STAT3 cause hyper‐IgE syndrome. Nature. 2007;448(7157):1058‐1062. doi:10.1038/nature06096 - DOI - PubMed
    1. Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper‐IGE syndrome. N Engl J Med. 2007;357(16):1608‐1619. doi:10.1056/nejmoa073687 - DOI - PubMed

Publication types