Article
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).
The Journal of experimental medicine - 3 Aug 2026
Gruber Conor, Ramba Meredith, Debnath Bineeta, Cuollo Lorenzo, Neehus Anna-Lena, Lee Angelica, Buta Sofija, Martin-Fernandez Marta, Rosain Jérémie, Berteloot Laureline, Drabent Philippe, Le Voyer Tom, Soudée Camille, Peel Jessica, Seeleuthner Yoann, Puel Anne, Zhang Shen-Ying, Ciancanelli Michael J, Arango-Franco Carlos A, Migaud Mélanie, Frémond Marie-Louise, Renaldo Florence, Boespflug-Tanguy Odile, Dorboz Imen, Dubern Beatrice, Fonteneau Tristan, Parvaneh Nima, Molatefi Rasol, Shahrooei Mohammad, Duffy Darragh, Bondet Vincent, Rice Gillian I, Crow Yanick J, Molina Thierry Jo, Boddaert Nathalie, Casanova Jean-Laurent, Houdouin Veronique, Melki Isabelle, Hadchouel Alice, Bustamante Jacinta, Bogunovic Dusan
Abstract excerpt
Mutations that enhance type I interferon (IFN-I) activity cause monogenic autoinflammatory disorders termed type I interferonopathies. Along with the typical neurologic and rheumatologic manifestations, severe pulmonary disease is increasingly recognized yet poorly understood. We studied three siblings presenting with early-onset, life-threatening pulmonary alveolar proteinosis (PAP) and autoinflammatory...
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