CASE REPORT article
Front. Pediatr.
Sec. Pediatric Immunology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1577746
Successful Anti-IL-6 Treatment for Interstitial Lung Disease Associated with STAT3 Gain-of-Function: A Case Report and Literature Review
Provisionally accepted
- Department of Rheumatology and Immunology, Nanjing Children's Hospital, Nanjing, China
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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.
Keywords: stat3, gain-of-function, Inborn error of immunity, Interstitial Lung Disease, tocilizumab
Received: 16 Feb 2025; Accepted: 23 Jun 2025.
Copyright: © 2025 Zhou, Zhu, Pan, Jin, Fan and Yu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Zhidan Fan, Department of Rheumatology and Immunology, Nanjing Children's Hospital, Nanjing, China
Haiguo Yu, Department of Rheumatology and Immunology, Nanjing Children's Hospital, Nanjing, China
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