Research & Literature

Diagnosis and management of primary ciliary dyskinesia.

Werner C, Onnebrink JG, Omran H

Cilia 2015; (4(1)):2 doi:10.1186/s13630-014-0011-8.

Treatment recommendations in Primary Ciliary Dyskinesia.

Polineni D, Davis SD, Dell SD

Paediatric respiratory reviews 2016; (18()):39-45.

Accuracy of diagnostic testing in primary ciliary dyskinesia.

Jackson CL, Behan L, Collins SA, et al.

The European respiratory journal 2016; (47(3)):837-48 doi:10.1183/13993003.00749-2015.

Primary ciliary dyskinesia in adults.

Honoré I, Burgel PR

Revue des maladies respiratoires 2016; (33(2)):165-89.

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia.

Grosse-Onnebrink J, Werner C, Loges NT, et al.

Pediatric research 2016; (79(5)):731-5 doi:10.1038/pr.2016.8.

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Amirav I, Wallmeier J, Loges NT, et al.

Human mutation 2016; (37(4)):396-405 doi:10.1002/humu.22957.

NADPH Oxidase-4 Overexpression Is Associated With Epithelial Ciliary Dysfunction in Neutrophilic Asthma.

Wan WY, Hollins F, Haste L, et al.

Chest 2016; (149(6)):1445-59.

[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination].

Ren J, Wang X, He Z

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2015; (29(21)):1911-4.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

Leigh MW, Ferkol TW, Davis SD, et al.

Annals of the American Thoracic Society 2016; (13(8)):1305-13 doi:10.1513/AnnalsATS.201511-748OC.

Primary Ciliary Dyskinesia.

Knowles MR, Zariwala M, Leigh M

Clinics in chest medicine 2016; (37(3)):449-61.

Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.

Dehlink E, Hogg C, Carr SB, Bush A

Expert review of respiratory medicine 2016; (10(11)):1163-1175 doi:10.1080/17476348.2016.1242414.

Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia.

Alanin MC, Aanaes K, Høiby N, et al.

International forum of allergy & rhinology 2017; (7(3)):240-247 doi:10.1002/alr.21873.

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.

Kuehni CE, Lucas JS

Breathe (Sheffield, England) 2017; (13(3)):166-178 doi:10.1183/20734735.008517.

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.

Shapiro AJ, Leigh MW

Ultrastructural pathology 2017; (41(6)):373-385 doi:10.1080/01913123.2017.1362088.

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.

Dixon M, Shoemark A

Ultrastructural pathology 2017; (41(6)):390-398 doi:10.1080/01913123.2017.1365990.

Kartagener's syndrome: a case report.

Tadesse A, Alemu H, Silamsaw M, Gebrewold Y

Journal of medical case reports 2018; (12(1)):5 doi:10.1186/s13256-017-1538-2.

Differential antiviral activities of respiratory syncytial virus (RSV) inhibitors in human airway epithelium.

Mirabelli C, Jaspers M, Boon M, et al.

The Journal of antimicrobial chemotherapy 2018; (73(7)):1823-1829 doi:10.1093/jac/dky089.

Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection.

Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG

The European respiratory journal 2018; (51(6)) doi:10.1183/13993003.02503-2017.

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis.

Contarini M, Shoemark A, Rademacher J, et al.

Multidisciplinary respiratory medicine 2018; (13(Suppl 1)):26 doi:10.1186/s40248-018-0143-6.

Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.

Nyilas S, Bauman G, Pusterla O, et al.

Annals of the American Thoracic Society 2018; (15(12)):1434-1442 doi:10.1513/AnnalsATS.201712-967OC.

Mcidas mutant mice reveal a two-step process for the specification and differentiation of multiciliated cells in mammals.

Lu H, Anujan P, Zhou F, et al.

Development (Cambridge, England) 2019; (146(6)) doi:10.1242/dev.172643.

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

Bequignon E, Dupuy L, Zerah-Lancner F, et al.

Journal of clinical medicine 2019; (8(5)) doi:10.3390/jcm8050619.

Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.

Bhatt JM, Muhonen EG, Meier M, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2019; (161(5)):877-880 doi:10.1177/0194599819874842.

Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers.

Bequignon E, Dupuy L, Escabasse V, et al.

Journal of clinical medicine 2019; (8(9)) doi:10.3390/jcm8091495.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Wallmeier J, Frank D, Shoemark A, et al.

American journal of human genetics 2019; (105(5)):1030-1039 doi:10.1016/j.ajhg.2019.09.022.

Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols.

Shapiro AJ, Dell SD, Gaston B, et al.

Annals of the American Thoracic Society 2020; (17(2)):e1-e12 doi:10.1513/AnnalsATS.201904-347OT.

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).

Shoemark A, Boon M, Brochhausen C, et al.

The European respiratory journal 2020; (55(4)) doi:10.1183/13993003.00725-2019.

Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.

Kobbernagel HE, Buchvald FF, Haarman EG, et al.

The Lancet. Respiratory medicine 2020; (8(5)):493-505 doi:10.1016/S2213-2600(20)30058-8.

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

Guo Z, Chen W, Wang L, Qian L

The Journal of pediatrics 2020; (225()):157-165.e5 doi:10.1016/j.jpeds.2020.05.052.

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Robson EA, Dixon L, Causon L, et al.

Neurology. Genetics 2020; (6(4)):e482 doi:10.1212/NXG.0000000000000482.

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.

Suzaki I, Hirano K, Arai S, et al.

The American journal of case reports 2020; (21()):e923270 doi:10.12659/AJCR.923270.

Airway-artery quantitative assessment on chest computed tomography in paediatric primary ciliary dyskinesia.

Ferraro V, Andrinopoulou ER, Sijbring AMM, et al.

ERJ open research 2020; (6(3)) doi:10.1183/23120541.00210-2019.

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.

Lee DDH, Cardinale D, Nigro E, et al.

The European respiratory journal 2021; (58(4)) doi:10.1183/13993003.00455-2020.

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia: A Review.

Dunsky K, Menezes M, Ferkol TW

JAMA otolaryngology-- head & neck surgery 2021; doi:10.1001/jamaoto.2021.0934.

Primary Ciliary Dyskinesia.

Shoemark A, Harman K

Seminars in respiratory and critical care medicine 2021; (42(4)):537-548 doi:10.1055/s-0041-1730919.

Bronchiectasis Exacerbations: Definitions, Causes, and Acute Management.

Perl S, Shteinberg M

Seminars in respiratory and critical care medicine 2021; (42(4)):595-605 doi:10.1055/s-0041-1730944.

Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective.

O'Connor MG, Horani A, Shapiro AJ

Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071278.

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature.

Reula A, Pitarch-Fabregat J, Milara J, et al.

Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071301.

Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.

Wang L, Zhao X, Liang H, et al.

BMC pulmonary medicine 2021; (21(1)):263 doi:10.1186/s12890-021-01586-4.

Quantitative Assessment of Ciliary Ultrastructure with the Use of Automatic Analysis: PCD Quant.

Felšöová A, Sloboda T, Hudec L, et al.

Diagnostics (Basel, Switzerland) 2021; (11(8)) doi:10.3390/diagnostics11081363.

Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.

Ma C, Wu H, Zhu D, et al.

Clinical genetics 2021; (100(6)):731-742 doi:10.1111/cge.14067.

A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia-Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center.

Müller L, Savas ST, Tschanz SA, et al.

Diagnostics (Basel, Switzerland) 2021; (11(9)) doi:10.3390/diagnostics11091540.

Current and Future Treatments in Primary Ciliary Dyskinesia.

Paff T, Omran H, Nielsen KG, Haarman EG

International journal of molecular sciences 2021; (22(18)) doi:10.3390/ijms22189834.

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Raidt J, Krenz H, Tebbe J, et al.

Annals of the American Thoracic Society 2022; (19(8)):1275-1284 doi:10.1513/AnnalsATS.202106-728OC.

SARS-CoV-2 Infection Dysregulates Cilia and Basal Cell Homeostasis in the Respiratory Epithelium of Hamsters.

Schreiner T, Allnoch L, Beythien G, et al.

International journal of molecular sciences 2022; (23(9)) doi:10.3390/ijms23095124.

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Shoemark A, Griffin H, Wheway G, et al.

The European respiratory journal 2022; (60(5)) doi:10.1183/13993003.00176-2022.

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.

Lam YT, Pedersen ESL, Schreck LD, et al.

Swiss medical weekly 2022; (152()):w30221.

Efficacy of Antibiotic Eradication Therapy of Early Pseudomonas aeruginosa Infection in Children with Primary Ciliary Dyskinesia.

Gatt D, Shaw M, Wee W, et al.

Annals of the American Thoracic Society 2023; (20(6)):854-860 doi:10.1513/AnnalsATS.202210-858OC.

Sinonasal disease among patients with primary ciliary dyskinesia: an international study.

Lam YT, Papon JF, Alexandru M, et al.

ERJ open research 2023; (9(3)) doi:10.1183/23120541.00701-2022.

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Ge H, Zhou W, He M, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2278 doi:10.1002/mgg3.2278.

Live-Imaging Centriole Amplification in Mouse Brain Multiciliated Cells.

Boudjema AR, Al Jord A, Lemaître AI, et al.

Methods in molecular biology (Clifton, N.J.) 2024; (2725()):167-180 doi:10.1007/978-1-0716-3507-0_10.

Role of Nasal Nitric Oxide in Primary Ciliary Dyskinesia and Other Respiratory Conditions in Children.

Paternò S, Pisani L, Zanconato S, et al.

International journal of molecular sciences 2023; (24(22)) doi:10.3390/ijms242216159.

Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series.

Surdut SP, van der Merwe E, Goussard P, Urban MF

African journal of thoracic and critical care medicine 2023; (29(3)) doi:10.7196/AJTCCM.2023.v29i3.425.

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

Ewen R, Pink I, Sutharsan S, et al.

Chest 2024; (166(5)):938-950 doi:10.1016/j.chest.2024.05.023.

Primary Ciliary Dyskinesia: A Clinical Review.

Despotes KA, Zariwala MA, Davis SD, Ferkol TW

Cells 2024; (13(11)) doi:10.3390/cells13110974.

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.

Yap KH, Lim AYH, Thomas B, et al.

Respirology case reports 2024; (12(11)):e70057 doi:10.1002/rcr2.70057.

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.

Legebeke J, Wheway G, Baker L, et al.

Human molecular genetics 2025; (34(2)):148-160 doi:10.1093/hmg/ddae164.

Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.

Novák J, Horáková L, Puchmajerová A, et al.

Basic and clinical andrology 2024; (34(1)):27 doi:10.1186/s12610-024-00244-z.

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.

Khoury Damaa M, Serizay J, Balagué R, et al.

Cell reports 2025; (44(1)):115117 doi:10.1016/j.celrep.2024.115117.

[Physiotherapy in Primary Ciliary Dyskinesia].

Krämer C, Flock J, Borges-Lüke B, et al.

Pneumologie (Stuttgart, Germany) 2025; (79(8)):577-584 doi:10.1055/a-2502-8151.

Nasal nitric oxide measurement for the diagnosis of primary ciliary dyskinesia: summary of the European Respiratory Society technical standard.

Marangu-Boore D, Lucas JS, Beydon N

Breathe (Sheffield, England) 2025; (21(2)):240230 doi:10.1183/20734735.0230-2024.

Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.

Matthaiou AM, Demetropoulou A, Kouis P, et al.

European respiratory review : an official journal of the European Respiratory Society 2025; (34(176)) doi:10.1183/16000617.0002-2025.

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Carretero-Vilarroig L, Blanco-Máñez R, Muñoz-Fernández N, et al.

Molecular diagnosis & therapy 2025; (29(6)):813-826 doi:10.1007/s40291-025-00801-w.

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.

Shoemark A, Goutaki M, Kinghorn B, et al.

The European respiratory journal 2025; (66(6)) doi:10.1183/13993003.00745-2025.

[Research progress on epithelial mucosal barrier impairment contributing to chronic rhinosinusitis].

Huang H, Cao S, Wu H

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2026; (40(2)):207-214 doi:10.13201/j.issn.2096-7993.2026.02.018.

Ciliary Beat Frequency and Pattern: An Accessible Tool for the Screening of Primary Ciliary Dyskinesia.

Kaspi E, Mazenq J, Pagin A, et al.

Diagnostics (Basel, Switzerland) 2026; (16(5)) doi:10.3390/diagnostics16050704.

Deuterosomal cells are the responsible lineage for multiciliogenesis in human airway differentiation.

Yamaki H, Konishi S, Tamai K, et al.

Stem cell reports 2026; (21(4)):102860 doi:10.1016/j.stemcr.2026.102860.

Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy.

Kumar M, Gatt D, Zysman-Colman Z, et al.

Pediatric pulmonology 2026; (61(5)):e71658 doi:10.1002/ppul.71658.

Airway imaging practices in primary ciliary dyskinesia: a global survey to guide standardized guidelines.

Robinson P, Yokote M, Bar-On O

The British journal of radiology 2026; (99(1186)):2105-2109 doi:10.1093/bjr/tqag156.

Early Structural Lung Changes in Primary Ciliary Dyskinesia (PCD).

Robinson P, Yokote M

Pediatric pulmonology 2026; (61(7)):e71731 doi:10.1002/ppul.71731.

Primary Ciliary Dyskinesia.

O'Connor MG, Mosquera R, Metjian H, et al.

CHEST pulmonary 2023; (1(1)):100004 doi:10.1016/j.chpulm.2023.100004.

Physiotherapy in Primary Ciliary Dyskinesia-What Is the Evidence?: A Narrative Review and Personal Experience.

Huenaerts E, Vreys M, Vermeulen F, et al.

Pediatric pulmonology 2026; (61(8)):e71790 doi:10.1002/ppul.71790.

Evaluating the efficacy and safety of macrolide therapy in primary ciliary dyskinesia: A systematic review.

Ghasempour Alamdari M, Pourpashang P, Khayatzadeh Kakhki S, et al.

Medicine 2026; (105(34)):e50263 doi:10.1097/MD.0000000000050263.

Pulmonary exacerbations in primary ciliary dyskinesia.

Gatt D, Golan-Tripto I, Goldbart A, Hazan G

European journal of pediatrics 2026; (185(9)).