Dupilumab to treat severe atopic dermatitis in autosomal dominant hyper-IgE syndrome

Clinical Immunology ◽

10.1016/j.clim.2020.108452 ◽

2020 ◽

Vol 215 ◽

pp. 108452 ◽

Cited By ~ 2

Author(s):

Georgios Sogkas ◽

Stefanie Hirsch ◽

Alexandra Jablonka ◽

Torsten Witte ◽

Reinhold E. Schmidt ◽

...

Keyword(s):

Atopic Dermatitis ◽

Autosomal Dominant ◽

Severe Atopic Dermatitis ◽

Hyper Ige Syndrome

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Treatment of Severe Atopic Dermatitis and Eosinophilic Esophagitis with Dupilumab in a 14-Year-Old Boy with Autosomal Dominant Hyper-IgE Syndrome

The Journal of Allergy and Clinical Immunology In Practice ◽

10.1016/j.jaip.2021.06.049 ◽

2021 ◽

Author(s):

Cheshil Dixit ◽

Akaluck Thatayatikom ◽

Helen Pappa ◽

Alan P. Knutsen

Keyword(s):

Atopic Dermatitis ◽

Eosinophilic Esophagitis ◽

Autosomal Dominant ◽

Severe Atopic Dermatitis ◽

Hyper Ige Syndrome

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Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases

Case Reports in Immunology ◽

10.1155/2021/2767012 ◽

2021 ◽

Vol 2021 ◽

pp. 1-5

Author(s):

A. Chin ◽

S. Balasubramanyam ◽

C. M. Davis

Keyword(s):

Autosomal Dominant ◽

Severe Infection ◽

Severe Atopic Dermatitis ◽

Genomic Testing ◽

Atopic Diseases ◽

Variants Of Unknown Significance ◽

Hyper Ige Syndrome ◽

Heterozygous Variant ◽

Unknown Significance ◽

Multiple Variants

Elevated IgE has been long recognized as an important clinical marker of atopy but can be seen in a myriad of conditions. The discovery of autosomal dominant STAT3 deficiency marked the first recognition of hyper-IgE syndrome (HIES) and the first primary immunodeficiency linked to elevated IgE. Since then, genomic testing has increased the number of defects with associated mutations causing hyper-IgE syndrome and atopic diseases with FLG, DOCK8, SPINK5, and CARD11, among others. A spectrum of recurrent infections and atopy are hallmarks of elevated IgE with significant phenotypic overlap between each underlying condition. As treatment is predicated on early diagnosis, genomic testing is becoming a more commonly used diagnostic tool. We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. Although no one mutation is completely causative of the constellation of symptoms in this patient, we suggest the synergism of these variants is an impetus of disease.

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