Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review
Autosomal dominant gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) result in an inborn error of immunity characterized by multi-organ autoimmunity and lymphoproliferation. In this study, we retrospectively analyzed a rare case of STAT3 GOF mutation w...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1577746/full |
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| author | Peng Zhou Meifang Zhu Yuting Pan Jing Jin Zhidan Fan Haiguo Yu |
| author_facet | Peng Zhou Meifang Zhu Yuting Pan Jing Jin Zhidan Fan Haiguo Yu |
| author_sort | Peng Zhou |
| collection | DOAJ |
| description | Autosomal dominant gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) result in an inborn error of immunity characterized by multi-organ autoimmunity and lymphoproliferation. In this study, we retrospectively analyzed a rare case of STAT3 GOF mutation with thrombocytopenia, immunoglobulin deficiency, and recurrent respiratory infections. Whole-exome sequencing revealed a heterozygous mutation (c. 2144C > T, p. P715l) in the STAT3 gene. The patient initially received only anti-infective and immunoglobulin-supportive therapies at an external hospital, which proved unsatisfactory. Over time, the patient developed severe interstitial lung disease (ILD) and arthritis, which were effectively managed with tocilizumab at our hospital. This case underscores the importance of early diagnosis and timely initiation of biological therapy for the management of ILD with STAT3 GOF mutations. |
| format | Article |
| id | doaj-art-c2fd0f24a3894a44868a95da70e285bf |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-c2fd0f24a3894a44868a95da70e285bf2025-08-20T02:36:07ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-07-011310.3389/fped.2025.15777461577746Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature reviewPeng ZhouMeifang ZhuYuting PanJing JinZhidan FanHaiguo YuAutosomal dominant gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) result in an inborn error of immunity characterized by multi-organ autoimmunity and lymphoproliferation. In this study, we retrospectively analyzed a rare case of STAT3 GOF mutation with thrombocytopenia, immunoglobulin deficiency, and recurrent respiratory infections. Whole-exome sequencing revealed a heterozygous mutation (c. 2144C > T, p. P715l) in the STAT3 gene. The patient initially received only anti-infective and immunoglobulin-supportive therapies at an external hospital, which proved unsatisfactory. Over time, the patient developed severe interstitial lung disease (ILD) and arthritis, which were effectively managed with tocilizumab at our hospital. This case underscores the importance of early diagnosis and timely initiation of biological therapy for the management of ILD with STAT3 GOF mutations.https://www.frontiersin.org/articles/10.3389/fped.2025.1577746/fullSTAT3gain-of-functioninborn error of immunityinterstitial lung diseasetocilizumab |
| spellingShingle | Peng Zhou Meifang Zhu Yuting Pan Jing Jin Zhidan Fan Haiguo Yu Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review Frontiers in Pediatrics STAT3 gain-of-function inborn error of immunity interstitial lung disease tocilizumab |
| title | Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review |
| title_full | Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review |
| title_fullStr | Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review |
| title_full_unstemmed | Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review |
| title_short | Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review |
| title_sort | successful anti il 6 treatment for interstitial lung disease associated with stat3 gain of function a case report and literature review |
| topic | STAT3 gain-of-function inborn error of immunity interstitial lung disease tocilizumab |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1577746/full |
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