Novel STAT3 variant causing infantile-onset autoimmune disease
Signal transducer and activator of transcription 3 (STAT3) is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. STAT3-related autoimmune disease is characterized by multiorgan autoimmunity, lymphoproliferative disease, and recurrent...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-11-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1251088/full |
| _version_ | 1797629717578252288 |
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| author | Miao Pan Miao Pan Miao Pan Justin Kurtz Justin Kurtz Justin Kurtz |
| author_facet | Miao Pan Miao Pan Miao Pan Justin Kurtz Justin Kurtz Justin Kurtz |
| author_sort | Miao Pan |
| collection | DOAJ |
| description | Signal transducer and activator of transcription 3 (STAT3) is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. STAT3-related autoimmune disease is characterized by multiorgan autoimmunity, lymphoproliferative disease, and recurrent infections. The presentation is variable, with some patients also developing neonatal diabetes mellitus and interstitial lung disease. Gain-of-function variants in the Src homology 2 domain, leading to autophosphorylation and activation of STAT3, have been previously reported in patients with disease. Here, we report a patient with a novel missense variant, p.Glu616Ala, in STAT3 presenting with infantile-onset multisystem autoimmune disease. |
| first_indexed | 2024-03-11T10:57:01Z |
| format | Article |
| id | doaj.art-2f36b156aecc4c20b2c5cc4e1ec770f2 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-11T10:57:01Z |
| publishDate | 2023-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-2f36b156aecc4c20b2c5cc4e1ec770f22023-11-13T04:28:23ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-11-011010.3389/fmed.2023.12510881251088Novel STAT3 variant causing infantile-onset autoimmune diseaseMiao Pan0Miao Pan1Miao Pan2Justin Kurtz3Justin Kurtz4Justin Kurtz5Division of Pathology and Laboratory Medicine, Children’s National Hospital, George Washington University, Washington, DC, United StatesDepartment of Pathology, The George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesDepartment of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesDivision of Pathology and Laboratory Medicine, Children’s National Hospital, George Washington University, Washington, DC, United StatesDepartment of Pathology, The George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesDepartment of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesSignal transducer and activator of transcription 3 (STAT3) is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. STAT3-related autoimmune disease is characterized by multiorgan autoimmunity, lymphoproliferative disease, and recurrent infections. The presentation is variable, with some patients also developing neonatal diabetes mellitus and interstitial lung disease. Gain-of-function variants in the Src homology 2 domain, leading to autophosphorylation and activation of STAT3, have been previously reported in patients with disease. Here, we report a patient with a novel missense variant, p.Glu616Ala, in STAT3 presenting with infantile-onset multisystem autoimmune disease.https://www.frontiersin.org/articles/10.3389/fmed.2023.1251088/fullSTAT3SH2infantile-onsetautoimmunesequencing |
| spellingShingle | Miao Pan Miao Pan Miao Pan Justin Kurtz Justin Kurtz Justin Kurtz Novel STAT3 variant causing infantile-onset autoimmune disease Frontiers in Medicine STAT3 SH2 infantile-onset autoimmune sequencing |
| title | Novel STAT3 variant causing infantile-onset autoimmune disease |
| title_full | Novel STAT3 variant causing infantile-onset autoimmune disease |
| title_fullStr | Novel STAT3 variant causing infantile-onset autoimmune disease |
| title_full_unstemmed | Novel STAT3 variant causing infantile-onset autoimmune disease |
| title_short | Novel STAT3 variant causing infantile-onset autoimmune disease |
| title_sort | novel stat3 variant causing infantile onset autoimmune disease |
| topic | STAT3 SH2 infantile-onset autoimmune sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1251088/full |
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