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Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?

MJ. Ponsford, A. Klocperk, F. Pulvirenti, VASH. Dalm, T. Milota, F. Cinetto, Z. Chovancova, MJ. Rial, A. Sediva, J. Litzman, C. Agostini, M. van Hagen, I. Quinti, S. Jolles,

. 2018 ; 73 (11) : 2122-2136. [pub] 20181002

Language English Country Denmark

Document type Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't, Review

Persistent link   https://www.medvik.cz/link/bmc19045347

Grant support
European Academy of Allergy and Clinical Immunology (EAACI) - International

The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototypic Job's syndrome (autosomal dominant STAT3-loss of function) and autosomal recessive PGM3 and SPINK5 syndromes. Early diagnosis of PID can direct life-saving or transformational interventions; however, it remains challenging owing to the rarity of these conditions. This can result in diagnostic delay and worsen prognosis. Within increasing access to "clinical-exome" testing, clinicians need to be aware of the implication and rationale for genetic testing, including the benefits and limitations of current therapies. Extreme elevation of serum IgE has been associated with a growing number of PID syndromes including the novel CARD11 and ZNF341 deficiencies. Variable elevations in IgE are associated with defects in innate, humoral, cellular and combined immunodeficiency syndromes. Barrier compromise can closely phenocopy these conditions. The aim of this article was to update readers on recent developments at this important interface between allergy and immunodeficiency, highlighting key clinical scenarios which should draw attention to possible immunodeficiency associated with extreme elevation of IgE, and outline initial laboratory assessment and management.

References provided by Crossref.org

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$a Klocperk, Adam $u Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
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$a Pulvirenti, Federica $u Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
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$a Dalm, Virgil A S H $u Department of Internal Medicine, Division of Clinical Immunology and Department of Immunology, Erasmus MC, Rotterdam, The Netherlands.
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$a Milota, Tomas $u Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
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