Hyper IgE syndromes : A clinical approach
Copyright © 2022 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 237(2022) vom: 01. Apr., Seite 108988 |
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| Auteur principal: | |
| Autres auteurs: | , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2022
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Journal Article Review Eczema High level IgE serum Hyper IgE syndromes Infection Primary immunodeficiency diseases DOCK8 protein, human Guanine Nucleotide Exchange Factors STAT3 Transcription Factor |
| Résumé: | Copyright © 2022 Elsevier Inc. All rights reserved. Hyper IgE syndromes (HIESs) are a group of rare inborn errors of immunity with a triad of eczema, increase susceptibility to sinopulmonary and skin infections with high level of IgE serum. Although most of HIESs are sporadic, hereditary types of these disorders have been studied well. There are several distinct immunodeficiency disorders which are phenotypically similar to HIES, and thus make the diagnosis of HIES challenging. In fact, the diagnosis of HIES is typically based on the clinical suspicion and immunological assessments. There is yet no specific curative treatment for most of HIESs at present, and the treatments are mostly standing on early diagnosis and preventive therapies. For instance, the genetic diagnosis is an important module, while, due to DOCK8 mutations, the hematopoietic stem cell transplantation is necessary for patients with autosomal recessive form of HIESs. Herein, we overview HIESs, highlight their peculiar clinical and laboratory features, and finally suggest a practical forthright diagnostic chart for clinical purposes |
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| Description: | Date Completed 18.04.2022 Date Revised 20.05.2022 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2022.108988 |