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 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.

Fig. 1. Clinical course of the patient.

At 11 months after HCT, the patient’s mild respiratory symptoms were exacerbated, and she developed pneumonia, sinusitis, and otitis media. Mucoactive agents, antihistamines, leukotriene receptor antagonists, bronchodilator agents, and clarithromycin were administered. Tympanostomy tubes were also inserted. At 12 years of age, only mucoactive agents were necessary for chronic otitis media.

Fig. 2. Radiological, pathological, and genetic features of the patient.

a Computed tomography scan of the chest 23 months after hematopoietic cell transplantation. The arrows highlight changes in bronchial wall thickening in the right lower lobe (red arrows). b Toluidine blue staining of the nasal mucosa. On light microscopy of nasal cilia, ciliated cells were only focally observed (black arrow). c Electropherograms showing heterozygous variants of CFAP43 (c.4506 G > A) in the patient and her mother.