Male patients with DKC1 pathogenic variants present pulmonary fibrosis at a young age and severe prognosis - Amsterdam 2025

Rare interstitial lung diseases: genetics, atypical aetiologies and novel mechanisms

Chair(s): Pilar Rivera Ortega, Ilias Dimeas

Session type: Poster session

Male patients with DKC1 pathogenic variants present pulmonary fibrosis at a young age and severe prognosis

Quentin Philippot

EVENTS HOME

Poster
Abstract

Previous presentation

Next presentation

Session content

Deciphering the pathogenicity of NKX2-1 variants in ultra-severe forms of childhood interstitial lung diseases. A CRC chILDEU study.

Yohan Soreze

Poster

Abstract

Bubbly lung, a honeycombing variant with more favorable outcome.

Vasilios Tzilas

Poster

Abstract

Late Breaking Abstract - Single-cell analysis identifies rare CCLHi monocyte-derived alveolar macrophages as potential ILD biomarker

Eliza Tsitoura

Poster

Abstract

Late Breaking Abstract - Multi-center validation of the Hypersensitivity pneumonitis South Asian questionnaire for Exposure

Sheetu Singh

Poster

Abstract

Late Breaking Abstract - Nerandomilast attenuates Pantoea agglomerans-induced hypersensitivity pneumonitis by regulating M1 macrophage and fibroblast

Yujie Shi

Poster

Abstract

LSC - 2025 - Exploring the antifibrotic potential of the heparan sulfate mimetic OTR4120

Manuela Marega

Poster

Abstract

Clinical, functional, radiological, and genetic characteristics in ILD patients with suspected genetic predisposition: Data from a regional UK familial interstitial pneumonia service

Trishala Raj

Poster

Abstract

Adulthood fibrotic Interstitial Lung Disease secondary to mutations in Surfactant Related Genes: a systematic review.

Claudio Tirelli

Poster

Abstract

Pulmonary mucosa associated lymphoid tissue lymphoma: Clinical and Imaging correlates

Vasilios Tzilas

Poster

Abstract

Histopathological and radiological assessment of Pulmonary Amyloidosis: A comprehensive five-year analysis

Amritha S M

Poster

Abstract

Serum Amyloid A released by lung fibroblasts as novel biomarker of exacerbation of lung fibrosis

Lara-kristin Steinmetz

Abstract

Hydrops fetalis, diffuse lung disease, lymphoedema and haemangiomas as leading symptoms in children with a biallelic pathogenic variants in the THSD1 gene

Sandra V. Hardenberg

Poster

Abstract

mTOR dysregulation in DIPNECH a viable therapeutic target?

Helen O'brien

Poster

Abstract

Male patients with DKC1 pathogenic variants present pulmonary fibrosis at a young age and severe prognosis

Quentin Philippot

Poster

Abstract

Interstitial lung disease: a 2-year-old child with ABCA3 deficiency treated by CFTR potentiators

François-pierre Counil

Poster

Abstract

SFTPA1 and SFTPA2 defects associated with interstitial lung disease are not always missense variations, a chILDEU study

Tifenn Desroziers

Poster

Abstract

HPS4 bi-allellic ultra-rare variants in Hermansky-Pudlak syndrome pulmonary fibrosis patients in Greece, Cyprus and Türkiye

Effrosyni D. Manali

Poster

Abstract

The potential role of radiomics in interstitial lung disease associated with systemic sclerosis (ILD-SSc)

Loredana Carobene

Poster

Abstract

Genetic Mutations in Familial Pulmonary Fibrosis: A Next Generation Sequencing (NGS) Study.

Simone Montini

Poster

Abstract

Late Breaking Abstract - GDNF and EFNA4 as promising biomarkers for lymphangioleiomyomatosis

Alice Villa

Poster

Abstract

CDN Connection Issue

The ERS Congress 2025, Amsterdam

#{title}