造血细胞移植后持续性呼吸道症状中的CFAP43变异体
CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.
作者信息
Nagasawa Shun, Nishimura Toyoki, Yamada Ai, Kamimura Sachiyo, Ishimura Masataka, Moritake Hiroshi
机构信息
Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
出版信息
Hum Genome Var. 2024 Nov 22;11(1):41. doi: 10.1038/s41439-024-00298-5.
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.
我们描述了一例造血细胞移植7年后发生的伴有原发性纤毛运动障碍（PCD）样症状（如反复肺炎、鼻窦炎和中耳炎）的RAS相关自身免疫性白细胞增殖性疾病。全外显子组测序揭示了一个杂合的CFAP43无义变异。与造血细胞移植相关的环境因素可能导致了携带此变异的该患者出现PCD症状。基因筛查有助于在患者管理过程中避免后续并发症。
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