造血细胞移植后持续呼吸道症状中的 CFAP43 变异。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-11-22 DOI:10.1038/s41439-024-00298-5

Shun Nagasawa, Toyoki Nishimura, Ai Yamada, Sachiyo Kamimura, Masataka Ishimura, Hiroshi Moritake

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摘要

我们描述了一例 RAS 相关自身免疫性白细胞增生性疾病患者，该患者在接受造血细胞移植 7 年后出现原发性睫状肌运动障碍（PCD）样症状，如反复发作的肺炎、鼻窦炎和中耳炎。全外显子组测序发现了一个杂合子CFAP43无义变体。与造血细胞移植相关的环境因素可能导致该变异体患者出现 PCD 症状。基因筛查有助于避免患者在治疗过程中出现后续并发症。

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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.

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.

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