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Current Allergy and Asthma Reports
Published in: Current Allergy and Asthma Reports 11/2020

01-11-2020 | Pediatric Allergy and Immunology (W Dolen, Section Editor)

The Child with Elevated IgE and Infection Susceptibility

Authors: Alexandra F. Freeman, Joshua D. Milner

Published in: Current Allergy and Asthma Reports | Issue 11/2020

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Abstract

Purpose of Review

Over the last 13 years, the genetic etiologies have been determined for multiple conditions causing elevated serum IgE, infection susceptibilities, and variable other features. In this review, we discuss the clinical presentation, laboratory features, and genetics of these diseases caused by mutations in STAT3, DOCK8, PGM3, IL6ST, ZNF341, IL6R, IL6ST, CARD11, and CARD14, with particular focus given to STAT3LOF and DOCK8 deficiency.

Recent Findings

Defining the phenotype of each of these syndromes with high IgE and infection susceptibility shows that some have a pronounced connective tissue phenotype such as STAT3LOF and IL6ST deficiency, some have worse viral susceptibility such as DOCK8 deficiency and heterozygous LOF CARD11, and some have more severe allergy and eczema such as LOF CARD14.

Summary

Studying these distinct but overlapping monogenic diseases will allow a better understanding of more common disease processes such as allergy, eczema, infection susceptibility, scoliosis, and aneurysm.
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Metadata
Title
The Child with Elevated IgE and Infection Susceptibility
Authors
Alexandra F. Freeman
Joshua D. Milner
Publication date
01-11-2020
Publisher
Springer US
Published in
Current Allergy and Asthma Reports / Issue 11/2020
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-020-00964-y

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