REVUE ALGERIENNE D’ALLERGOLOGIE
Volume 11, Numéro 2, Pages 1-14
2026-07-30
Genetic Heterogeneity Of Hyper Ige Syndromes
Auteurs : Berkani Lylia Meriem .
Résumé
KEYWORDS Hyper-IgE syndromes ; Inborn errors of immunity ; Genetic heterogeneity Abstract Introduction : Hyper-IgE syndromes (HIES) are rare inborn errors of immunity characterized by elevated serum IgE levels, eczema, recurrent infections, and a broad spectrum of immunological and extra-immunological manifestations. Over the past two decades, the identification of new disease-causing genes has substantially changed our understanding of these disorders and revealed considerable genetic heterogeneity. Methods : We reviewed the literature on the genetic causes of HIES and HIES-like disorders, focusing on the molecular pathways involved, genotype–phenotype relationships, and current diagnostic classification. Both autosomal dominant and autosomal recessive forms were included. Results : HIES are caused by defects affecting several biological pathways. Alterations of the IL-6/STAT3 axis, involving STAT3, IL6R, IL6ST, and ZNF341, account for a substantial proportion of cases and are associated with impaired Th17 immunity. Other forms result from abnormalities in TGF-β signaling, NF-κB activation, epithelial barrier function, glycosylation, or cytoskeletal organization. Recent discoveries, including OSMR deficiency, further expand the spectrum of disorders associated with elevated IgE levels. Although these conditions share common clinical features, important differences exist regarding infectious susceptibility, allergic manifestations, connective tissue involvement, neurological abnormalities, and treatment options. In addition, several other inborn errors of immunity may present with marked IgE elevation and should be considered in the differential diagnosis. Conclusion : HIES represent a diverse group of monogenic disorders rather than a single disease entity. Recognition of the underlying genetic defect is essential for accurate diagnosis, genetic counseling, prognostic evaluation, and selection of the most appropriate therapeutic strategy. © 2026 Algerian Journal of Allergy and Clinical Immunology. All rights reserved.
Mots clés
Hyper-IgE syndromes ; Inborn errors of immunity ; Genetic heterogeneity
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