CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.

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

Abstract read

In one paragraph

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Shun NagasawaDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID http://orcid.org/0009-0000-3890-6623

Toyoki NishimuraDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

Ai YamadaDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

Sachiyo KamimuraDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

Masataka IshimuraDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Hiroshi MoritakeDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. hiroshi_moritake@med.miyazaki-u.ac.jp.ORCID http://orcid.org/0000-0001-5471-7646

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Identifiers

PMID39572557

DOI10.1038/s41439-024-00298-5

PMCPMC11582709

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.