CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation
Abstract We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heteroz...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-11-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00298-5 |
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| _version_ | 1832594885075533824 |
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| author | Shun Nagasawa Toyoki Nishimura Ai Yamada Sachiyo Kamimura Masataka Ishimura Hiroshi Moritake |
| author_facet | Shun Nagasawa Toyoki Nishimura Ai Yamada Sachiyo Kamimura Masataka Ishimura Hiroshi Moritake |
| author_sort | Shun Nagasawa |
| collection | DOAJ |
| description | Abstract We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management. |
| format | Article |
| id | doaj-art-1cb7c90713094b38a43e660beefd180d |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-1cb7c90713094b38a43e660beefd180d2025-01-19T12:15:43ZengNature Publishing GroupHuman Genome Variation2054-345X2024-11-011111410.1038/s41439-024-00298-5CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantationShun Nagasawa0Toyoki Nishimura1Ai Yamada2Sachiyo Kamimura3Masataka Ishimura4Hiroshi Moritake5Division of Pediatrics, Faculty of Medicine, University of MiyazakiDivision of Pediatrics, Faculty of Medicine, University of MiyazakiDivision of Pediatrics, Faculty of Medicine, University of MiyazakiDivision of Pediatrics, Faculty of Medicine, University of MiyazakiDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu UniversityDivision of Pediatrics, Faculty of Medicine, University of MiyazakiAbstract We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management.https://doi.org/10.1038/s41439-024-00298-5 |
| spellingShingle | Shun Nagasawa Toyoki Nishimura Ai Yamada Sachiyo Kamimura Masataka Ishimura Hiroshi Moritake CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation Human Genome Variation |
| title | CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| title_full | CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| title_fullStr | CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| title_full_unstemmed | CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| title_short | CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| title_sort | cfap43 variant in persistent respiratory symptoms after hematopoietic cell transplantation |
| url | https://doi.org/10.1038/s41439-024-00298-5 |
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