A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency

Pediatr Pulmonol. 2023 Nov;58(11):3333-3336. doi: 10.1002/ppul.26607. Epub 2023 Jul 28.

Authors

Mehmet Halil Celiksoy¹, Işılay Turan¹, Alper Gezdirici², Ozgecan Kayalar³, Çiğdem Aydoğmuş¹, Sezin Naiboglu¹

Affiliations

¹ Department of Pediatric Allergy and Immunology, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
² Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
³ Research Center for Translational Medicine (KUTTAM), Koc University, Istanbul, Turkey.

PMID: 37503872
DOI: 10.1002/ppul.26607

No abstract available

Keywords: CCNO gene; bronchiectasis; primary immunodeficiency; primary siliary dyskinesia; selective IgM deficiency.

MeSH terms

Ciliary Motility Disorders*
Frameshift Mutation
Homozygote
Humans
Immunoglobulin M
Kartagener Syndrome*
Mutation

Substances

Immunoglobulin M