Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations
Human inborn errors of immunity (IEI) are a group of distinct genetic disorders affecting children and adults, leading to recurrent infections, immune dysregulations, and malignancies. Over the course of the past decades, this area of research has witnessed significant progress in describing numerou...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2024-04-01
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| Series: | Turkish Journal of Immunology |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tji&un=TJI-39200 |
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| author | Safa Barış Talal A. Chatila |
| author_facet | Safa Barış Talal A. Chatila |
| author_sort | Safa Barış |
| collection | DOAJ |
| description | Human inborn errors of immunity (IEI) are a group of distinct genetic disorders affecting children and adults, leading to recurrent infections, immune dysregulations, and malignancies. Over the course of the past decades, this area of research has witnessed significant progress in describing numerous monogenic disorders. A subset of IEI, which manifests as severe allergic disorders, recently termed "primary atopic disorders'', now encompasses over 30 monogenic defects. Notably, the Janus kinase (JAK)-signal transducer and activator of transcription 6 (STAT6) signaling pathway plays a pivotal role in mediating allergic responses and developing primary atopic disorders. Herein, we detail a newly described IEI disorder due to gain-of-function mutations in STAT6 associated with severe allergic dysregulation. We outline its underlying mechanisms and present therapeutic approaches to its management. |
| format | Article |
| id | doaj-art-73d1d9f16520424887bb4cf8f67a27fd |
| institution | Kabale University |
| issn | 1301-109X 2147-8325 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Immunology |
| spelling | doaj-art-73d1d9f16520424887bb4cf8f67a27fd2025-01-17T13:55:52ZengGalenos Publishing HouseTurkish Journal of Immunology1301-109X2147-83252024-04-0112Suppl 1535910.4274/tji.galenos.2023.39200TJI-39200Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function MutationsSafa Barış0Talal A. Chatila1Division of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey, İstanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Marmara University, İstanbul, Turkey and The Işıl Berat Barlan Center for Translational Medicine, Marmara University, İstanbul, TurkeyDivision of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USAHuman inborn errors of immunity (IEI) are a group of distinct genetic disorders affecting children and adults, leading to recurrent infections, immune dysregulations, and malignancies. Over the course of the past decades, this area of research has witnessed significant progress in describing numerous monogenic disorders. A subset of IEI, which manifests as severe allergic disorders, recently termed "primary atopic disorders'', now encompasses over 30 monogenic defects. Notably, the Janus kinase (JAK)-signal transducer and activator of transcription 6 (STAT6) signaling pathway plays a pivotal role in mediating allergic responses and developing primary atopic disorders. Herein, we detail a newly described IEI disorder due to gain-of-function mutations in STAT6 associated with severe allergic dysregulation. We outline its underlying mechanisms and present therapeutic approaches to its management.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tji&un=TJI-39200inborn errors of immunityprimary atopic disordergenetichyperigejak-stat6 pathwaygain-of-functiontargeted therapy |
| spellingShingle | Safa Barış Talal A. Chatila Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations Turkish Journal of Immunology inborn errors of immunity primary atopic disorder genetic hyperige jak-stat6 pathway gain-of-function targeted therapy |
| title | Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations |
| title_full | Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations |
| title_fullStr | Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations |
| title_full_unstemmed | Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations |
| title_short | Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations |
| title_sort | identification of a novel primary atopic disorder due to stat6 gain of function mutations |
| topic | inborn errors of immunity primary atopic disorder genetic hyperige jak-stat6 pathway gain-of-function targeted therapy |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tji&un=TJI-39200 |
| work_keys_str_mv | AT safabarıs identificationofanovelprimaryatopicdisorderduetostat6gainoffunctionmutations AT talalachatila identificationofanovelprimaryatopicdisorderduetostat6gainoffunctionmutations |