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CASE REPORT article

Front. Pharmacol.
Sec. Obstetric and Pediatric Pharmacology
Volume 16 - 2025 | doi: 10.3389/fphar.2025.1487993

Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency

Provisionally accepted
Jie Wu Jie Wu Yimu Fan Yimu Fan Feng Huo Feng Huo Jie Deng Jie Deng QUAN WANG QUAN WANG Yuelin Shen Yuelin Shen *
  • National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

The final, formatted version of the article will be published soon.

    Cytosolic isoleucyl-tRNA synthetase (IARS1) deficiency, an exceptionally rare autosomal recessive inherited disorder, is characterized by multiple system involvement, including growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. Pulmonary alveolar proteinosis (PAP) is a rare phenotype of IARS1 deficiency, having been reported in only two siblings from the same family.In this study, we present a case of IARS1 deficiency in a 5-month-old boy, who exhibited PAP as the initial and predominant manifestation. Additionally, whole-exome sequencing identified compound heterozygous variants in the IARS1 gene (c.2428C>T/c.128T>C), both of which are novel observations.

    Keywords: IARS1 gene, Pulmonary alveolar proteinosis (PAP), Infant, gene muatation, case repoort

    Received: 29 Aug 2024; Accepted: 10 Jan 2025.

    Copyright: © 2025 Wu, Fan, Huo, Deng, WANG and Shen. 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: Yuelin Shen, National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.