Biallelic loss-of-function and novel hypomorphic polo-like kinase 4 (PLK4) variants in primary ciliary dyskinesia (PCD) - Amsterdam 2025

Primary ciliary dyskinesia in focus: mechanisms, markers and multidisciplinary care

Chair(s): Amelia Shoemark, Laura Petrarca

Session type: Poster session

Biallelic loss-of-function and novel hypomorphic polo-like kinase 4 (PLK4) variants in primary ciliary dyskinesia (PCD)

Claire L Jackson

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Clinical and demographic characteristics of patients diagnosed with Primary Ciliary Dyskinesia with CCDC40 homozygous mutation

Mine Yüksel Kalyoncu

Poster

Abstract

Utilising human cellular models of Primary Ciliary Dyskinesia: A scoping review

Jonathan Ong

Poster

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Interferon-signaling gene scores as a biomarker for SAVI in patients with interstitial lung disease

Heidi Schaballie

Poster

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Biomarkers in primary ciliary dyskinesia (PCD): A systematic review

Laura Gardner

Poster

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Respiratory Function in Primary Ciliary Dyskinesia Patients: The Role of Inhaled Treatment

Manel Jabberi

Poster

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Impact of microbiological status on clinical and functional characteristics in Primary Ciliary Dyskinesia: the Microsurvey Study

Valentina Agnese Ferraro

Poster

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Risk factors and outcomes of vitamin D deficiency in paediatric primary ciliary dyskinesia

Nicola Rowbotham

Poster

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Prevalence and trends in asthma diagnosis within a paediatric Primary Ciliary Dyskinesia cohort.

Natalie Blyth

Poster

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Genetic background and pulmonary exacerbations in patients with primary ciliary dyskinesia

Pinelopi Anagnostopoulou

Poster

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Primary ciliary dyskinesia: treat the patient, not their gene!

Kewei Zhang

Poster

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Accuracy of immunofluorescence testing in the diagnosis of Primary Ciliary Dyskinesia (PCD): a six-year review at a specialist referral center

Mathieu Bottier

Poster

Abstract

Biallelic loss-of-function and novel hypomorphic polo-like kinase 4 (PLK4) variants in primary ciliary dyskinesia (PCD)

Claire L Jackson

Poster

Abstract

Comparison of clinician-defined exacerbation and a modified version of the expert consensus in pulmonary exacerbations in primary ciliary dyskinesia (PCD),a BEAT-PCD collaboration

Kewei Zhang

Poster

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Move-PCD A longitudinal randomised controlled trial of the effect of a physical activity program on quality of life in children and adults with PCD

Anne Schlegtendal

Poster

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Barriers and priorities for care for patients with primary ciliary dyskinesia (PCD): BEAT-PCD survey on experts opinions

Bruna Rubbo

Poster

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Systematic review of artificial intelligence and digital-automated tools to improve screening, diagnosis and characterization of Primary Ciliary Dyskinesia

Panayiotis Kouis

Poster

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Phenotypic presentation of an RPGR primary ciliary dyskinesia (PCD) cohort

Janice Coles

Poster

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Multimodal diagnostic evaluation in PCD patients without genetic confirmation

Mathieu Bottier

Poster

Abstract

High reproducibility in assessing ciliary biomarkers for primary ciliary dyskinesia clinical trials

Mathieu Bottier

Poster

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Late Breaking Abstract - Comparison of Characteristics Between Patients with Definite Genetic Diagnosis and Patients with Variants of Uncertain Clinical Significance in Primary Ciliary Dyskinesi

Isil BilgiÇ

Poster

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CDN Connection Issue

The ERS Congress 2025, Amsterdam

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