<i>Staphylococcus aureus</i> and Hyper-IgE Syndrome
Hyper-immunoglobulin E syndrome (HIES) is a primary immunodeficiency disease characterized by recurrent <i>Staphylococcus aureus</i> (<i>S. aureus</i>) infections, eczema, skeletal abnormalities and high titers of serum immunoglobulin E. Although the genetic basis of HIES was...
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MDPI AG
2020-12-01
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author | Bonggoo Park George Y. Liu |
author_facet | Bonggoo Park George Y. Liu |
author_sort | Bonggoo Park |
collection | DOAJ |
description | Hyper-immunoglobulin E syndrome (HIES) is a primary immunodeficiency disease characterized by recurrent <i>Staphylococcus aureus</i> (<i>S. aureus</i>) infections, eczema, skeletal abnormalities and high titers of serum immunoglobulin E. Although the genetic basis of HIES was not known for almost a half century, HIES most frequently exhibits autosomal dominant trait that is transmitted with variable expressivity. Careful genetic studies in recent years identified dominant-negative mutations in human signal transducer and activator of transcription 3 (<i>STAT3</i>) gene as the cause of sporadic and dominant forms of HIES. The <i>STAT3</i> mutations were localized to DNA-binding, SRC homology 2 (SH2) and transactivating domains and disrupted T helper 17 (T<sub>H</sub>17) cell differentiation and downstream expression of T<sub>H</sub>17 cytokines IL-17 and IL-22. Deficiency of IL-17 and IL-22 in turn is responsible for suboptimal expression of anti-staphylococcal host factors, such as neutrophil-recruiting chemokines and antimicrobial peptides, by human keratinocytes and bronchial epithelial cells. T<sub>H</sub>17 cytokines deficiency thereby explains the recurrent staphylococcal lung and skin infections of HIES patients. |
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issn | 1661-6596 1422-0067 |
language | English |
last_indexed | 2024-03-10T14:24:56Z |
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series | International Journal of Molecular Sciences |
spelling | doaj.art-1315a3c4b0bc459484862685d6f50b842023-11-20T23:05:08ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-12-012123915210.3390/ijms21239152<i>Staphylococcus aureus</i> and Hyper-IgE SyndromeBonggoo Park0George Y. Liu1Division of Pediatric Infectious Diseases and the Immunobiology Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USADepartment of Pediatrics, University of California San Diego, La Jolla, CA 92093, USAHyper-immunoglobulin E syndrome (HIES) is a primary immunodeficiency disease characterized by recurrent <i>Staphylococcus aureus</i> (<i>S. aureus</i>) infections, eczema, skeletal abnormalities and high titers of serum immunoglobulin E. Although the genetic basis of HIES was not known for almost a half century, HIES most frequently exhibits autosomal dominant trait that is transmitted with variable expressivity. Careful genetic studies in recent years identified dominant-negative mutations in human signal transducer and activator of transcription 3 (<i>STAT3</i>) gene as the cause of sporadic and dominant forms of HIES. The <i>STAT3</i> mutations were localized to DNA-binding, SRC homology 2 (SH2) and transactivating domains and disrupted T helper 17 (T<sub>H</sub>17) cell differentiation and downstream expression of T<sub>H</sub>17 cytokines IL-17 and IL-22. Deficiency of IL-17 and IL-22 in turn is responsible for suboptimal expression of anti-staphylococcal host factors, such as neutrophil-recruiting chemokines and antimicrobial peptides, by human keratinocytes and bronchial epithelial cells. T<sub>H</sub>17 cytokines deficiency thereby explains the recurrent staphylococcal lung and skin infections of HIES patients.https://www.mdpi.com/1422-0067/21/23/9152hyper-immunoglobulin E syndrome (HIES)primary immunodeficiency disease<i>Staphylococcus aureus</i>signal transducer and activator of transcription 3T helper 17 (T<sub>H</sub>17) cellchemokines |
spellingShingle | Bonggoo Park George Y. Liu <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome International Journal of Molecular Sciences hyper-immunoglobulin E syndrome (HIES) primary immunodeficiency disease <i>Staphylococcus aureus</i> signal transducer and activator of transcription 3 T helper 17 (T<sub>H</sub>17) cell chemokines |
title | <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome |
title_full | <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome |
title_fullStr | <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome |
title_full_unstemmed | <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome |
title_short | <i>Staphylococcus aureus</i> and Hyper-IgE Syndrome |
title_sort | i staphylococcus aureus i and hyper ige syndrome |
topic | hyper-immunoglobulin E syndrome (HIES) primary immunodeficiency disease <i>Staphylococcus aureus</i> signal transducer and activator of transcription 3 T helper 17 (T<sub>H</sub>17) cell chemokines |
url | https://www.mdpi.com/1422-0067/21/23/9152 |
work_keys_str_mv | AT bonggoopark istaphylococcusaureusiandhyperigesyndrome AT georgeyliu istaphylococcusaureusiandhyperigesyndrome |