ERS Congress 2024: highlights from the Interstitial Lung Diseases Assembly.

Sorbonne University, Inserm UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Paris, France; Assistance Publique Hôpitaux de Paris, Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Paris, France.

Camille Louvrier Tifenn Desroziers Yohan Soreze Martha Delgado Rodriguez Lucie Thomas

Background: LAMP3 encodes a lysosomal membrane protein associated with lamellar bodies and has recently been proposed as a candidate gene for childhood interstitial lung diseases (chILD). Here, we identified two LAMP3 variants in a proband with chILD and performed functional validation of these variants as well as the previously reported variants to demonstrate the role of LAMP3 in pathology.

Methods: LAMP3 variants were identified by exome sequencing.

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Neutrophilic inflammation in sputum or blood does not define a clinically distinct asthma phenotype in ATLANTIS.

ERJ Open Res

January 2025

Department of Pulmonary Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Pauline J M Kuks Tessa M Kole Monica Kraft Salman Siddiqui Leonardo M Fabbri

Introduction: Neutrophilic asthma has been suggested to be a clinically distinct phenotype characterised by more severe airflow obstruction and higher exacerbation risk. However, this has only been assessed in few and smaller studies, using different cut-offs to define neutrophilia, and with conflicting results. We used data from ATLANTIS, an observational longitudinal study including a large number of patients with asthma and healthy controls.

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