{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T19:06:31Z","timestamp":1789585591883,"version":"build-2803163510"},"reference-count":28,"publisher":"Japanese Society of Internal Medicine","issue":"20","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2024,10,15]]},"DOI":"10.2169\/internalmedicine.3263-23","type":"journal-article","created":{"date-parts":[[2024,3,3]],"date-time":"2024-03-03T22:17:22Z","timestamp":1709504242000},"page":"2847-2851","source":"Crossref","is-referenced-by-count":6,"title":["Primary Ciliary Dyskinesia Caused by Homozygous &lt;i&gt;DNAAF1&lt;\/i&gt; Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan"],"prefix":"10.2169","volume":"63","author":[{"given":"Masashi","family":"Ito","sequence":"first","affiliation":[{"name":"Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozo","family":"Morimoto","sequence":"additional","affiliation":[{"name":"Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan"},{"name":"Division of Clinical Research, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan"},{"name":"Department of Clinical Mycobacteriosis, Nagasaki University Graduate School of Biomedical Sciences, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikio","family":"Saotome","sequence":"additional","affiliation":[{"name":"Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Miyabayashi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Wakabayashi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Mycobacterium Reference and Research, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minako","family":"Hijikata","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Keicho","sequence":"additional","affiliation":[{"name":"The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Ohta","sequence":"additional","affiliation":[{"name":"Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Goutaki M, Shoemark A. Diagnosis of Primary Ciliary Dyskinesi. Clin Chest Med 43: 127-140, 2022.","DOI":"10.1016\/j.ccm.2021.11.008"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Barbato A, Frischer T, Kuehni CE, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 34: 1264-1276, 2009.","DOI":"10.1183\/09031936.00176608"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies. Nat Rev Dis Primers 6: 77, 2020.","DOI":"10.1038\/s41572-020-0209-6"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Keicho N, Morimoto K, Hijikata M. The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants. J Hum Genet 68: 571-575, 2023.","DOI":"10.1038\/s10038-023-01166-w"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Zhou L, Li Z, Du C, et al. Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia. Mol Med Rep 22: 4707-4715, 2020.","DOI":"10.3892\/mmr.2020.11562"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Behan L, Dimitrov BD, Kuehni CE, et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J 47: 1103-1112, 2016.","DOI":"10.1183\/13993003.01551-2015"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Shapiro AJ, Dell SD, Gaston B, et al. Nasal nitric oxide measurement in primary ciliary dyskinesia. a technical paper on standardized testing protocols. Ann Am Thorac Soc 17: e1-e12, 2020.","DOI":"10.1513\/AnnalsATS.201904-347OT"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Shoemark A, Boon M, Brochhausen C, et al. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J 55: 2020.","DOI":"10.1183\/13993003.00725-2019"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Goutaki M, Maurer E, Halbeisen FS, et al. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. Eur Respir J 49: 2017.","DOI":"10.1183\/13993003.01181-2016"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Inaba A, Furuhata M, Morimoto K, et al. Primary ciliary dyskinesia in Japan: systematic review and meta-analysis. BMC Pulm Med 19: 135, 2019.","DOI":"10.1186\/s12890-019-0897-4"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Imaizumi Y. A recent survey of consanguineous marriages in Japan. Clin Genet 30: 230-233, 1986.","DOI":"10.1111\/j.1399-0004.1986.tb00600.x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 8: 202-216, 2020.","DOI":"10.1016\/S2213-2600(19)30374-1"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Duquesnoy P, Escudier E, Vincensini L, et al. Loss-of-function mutations in the human ortholog of <i>Chlamydomonas reinhardtii ODA7<\/i> disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet 85: 890-896, 2009.","DOI":"10.1016\/j.ajhg.2009.11.008"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Peng B, Gao YH, Xie JQ, et al. Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review. Orphanet J Rare Dis 17: 283, 2022.","DOI":"10.1186\/s13023-022-02427-1"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 92: 1136-1140, 2007.","DOI":"10.1136\/adc.2006.096958"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Keicho N, Hijikata M, Morimoto K, et al. Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of <i>DRC1<\/i> in Japanese patients with recurrent sinopulmonary infection. Mol Genet Genomic Med 8: e1033, 2020.","DOI":"10.1002\/mgg3.1033"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Morimoto K, Hijikata M, Zariwala MA, et al. Recurring large deletion in <i>DRC1<\/i> (<i>CCDC164<\/i>) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genomic Med 7: e838, 2019.","DOI":"10.1002\/mgg3.838"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Keicho N, Hijikata M, Miyabayashi A, et al. Impact of primary ciliary dyskinesia: beyond sinobronchial syndrome in Japan. Respir Investig 62: 179-186, 2024.","DOI":"10.1016\/j.resinv.2023.12.005"},{"key":"19","doi-asserted-by":"publisher","unstructured":"19. Chiyonobu K, Xu Y, Feng G, et al. Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia. Auris Nasus Larynx 49: 248-257, 2022.","DOI":"10.1016\/j.anl.2021.08.003"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Alanin MC, Nielsen KG, von Buchwald C, et al. A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia. Clin Microbiol Infect 21: 1093.e1-7, 2015.","DOI":"10.1016\/j.cmi.2015.08.020"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Shoemark A. <i>Haemophilus influenzae<\/i> biofilms in primary ciliary dyskinesia: a moving story. Eur Respir J 50: 2017.","DOI":"10.1183\/13993003.01369-2017"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Piatti G, De Santi MM, Farolfi A, et al. Exacerbations and <i>Pseudomonas aeruginosa<\/i> colonization are associated with altered lung structure and function in primary ciliary dyskinesia. BMC Pediatr 20: 158, 2020.","DOI":"10.1186\/s12887-020-02062-4"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 169: 459-467, 2004.","DOI":"10.1164\/rccm.200303-365OC"},{"key":"24","unstructured":"24. Chang H, Adjemian J, Dell SD, et al. Prevalence of airway microbial flora in primary ciliary dyskinesia. In: A47. CLINICAL ASPECTS AND DIAGNOSIS OF RESPIRATORY TRACT INFECTIONS. American Thoracic Society, 2015: A1798-A1798."},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Lin CY, Huang HY, Hsieh MH, et al. Impacts of nontuberculous mycobacteria isolates in non-cystic fibrosis bronchiectasis: a 16-year cohort study in Taiwan. Front Microbiol 13: 868435, 2022.","DOI":"10.3389\/fmicb.2022.868435"},{"key":"26","doi-asserted-by":"publisher","unstructured":"26. Rademacher J, Dettmer S, Fuge J, et al. The primary ciliary dyskinesia computed tomography score in adults with bronchiectasis: a derivation und validation study. Respiration 100: 499-509, 2021.","DOI":"10.1159\/000514927"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Kadura S, Raghu G. Rheumatoid arthritis-interstitial lung disease: manifestations and current concepts in pathogenesis and management. Eur Respir Rev 30: 2021.","DOI":"10.1183\/16000617.0011-2021"},{"key":"28","doi-asserted-by":"publisher","unstructured":"28. Hartman TE, Swensen SJ, Williams DE. Mycobacterium avium-intracellulare complex: evaluation with CT. Radiology 187: 23-26, 1993.","DOI":"10.1148\/radiology.187.1.8451419"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/63\/20\/63_3263-23\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T03:28:39Z","timestamp":1729308519000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/63\/20\/63_3263-23\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,15]]},"references-count":28,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.3263-23","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,15]]},"article-number":"3263-23"}}