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Loss of function mutations in CARD11 leading to allergy and infection susceptibility
- Publisher
- Springer Journals
- Copyright
- Copyright © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2020
- ISSN
- 1529-7322
- eISSN
- 1534-6315
- DOI
- 10.1007/s11882-020-00964-y
- Publisher site
- See Article on Publisher Site
Abstract
Purpose of ReviewOver 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 FindingsDefining 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.SummaryStudying 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.
Journal
Current Allergy and Asthma Reports – Springer Journals
Published: Nov 1, 2020
Keywords: Hyper IgE syndrome; IgE; STAT3; ZNF341; DOCK8; PGM3; CARD11; CARD14; IL6ST; IL6R