Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency
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) i...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2025.1487993/full |
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| author | Jie Wu Yimu Fan Feng Huo Jie Deng Quan Wang Yuelin Shen Yuelin Shen |
| author_facet | Jie Wu Yimu Fan Feng Huo Jie Deng Quan Wang Yuelin Shen Yuelin Shen |
| author_sort | Jie Wu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-edecc6127bb34eb9b9b02fe8e13c4c99 |
| institution | Kabale University |
| issn | 1663-9812 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj-art-edecc6127bb34eb9b9b02fe8e13c4c992025-01-30T06:22:42ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-01-011610.3389/fphar.2025.14879931487993Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiencyJie Wu0Yimu Fan1Feng Huo2Jie Deng3Quan Wang4Yuelin Shen5Yuelin Shen6Emergency Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaEmergency Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaEmergency Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaNeurology Department, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaRespiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaCytosolic 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.https://www.frontiersin.org/articles/10.3389/fphar.2025.1487993/fullIARS1 genepulmonary alveolar proteinosis (PAP)infantgene muatationcase repoort |
| spellingShingle | Jie Wu Yimu Fan Feng Huo Jie Deng Quan Wang Yuelin Shen Yuelin Shen Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency Frontiers in Pharmacology IARS1 gene pulmonary alveolar proteinosis (PAP) infant gene muatation case repoort |
| title | Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency |
| title_full | Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency |
| title_fullStr | Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency |
| title_full_unstemmed | Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency |
| title_short | Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency |
| title_sort | case report infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl trna synthetase deficiency |
| topic | IARS1 gene pulmonary alveolar proteinosis (PAP) infant gene muatation case repoort |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2025.1487993/full |
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