Article
D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.
The European respiratory journal - 1 Feb 2026
Louvrier Camille, Soreze Yohan, Mesinele Julie, de Becdelièvre Alix, Desroziers Tifenn, Nau Valérie, Dastot-Le Moal Florence, Levergeois Romain, Legendre Marie, Giurgea Irina, Konyukh Marina, Abou Taam Rola, Becourt Arnaud, Cosson Laure, Gibertini Isabelle, Borie Raphaël, Rodriguez Diana, Troadec Corinne, Coulomb L'Herminé Aurore, Dubus Jean-Christophe, Nathan Nadia
Abstract excerpt
BACKGROUND: Neuroendocrine cell hyperplasia of infancy (NEHI), also called persistent tachypnoea of infancy (PTI), is a major cause of childhood interstitial lung disease. This rare lung disease is responsible for respiratory insufficiency in the first years of life. Non-pulmonary symptoms have also been reported, including failure to thrive and developmental delay. The pathophysiology of NEHI/PTI remains...
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