CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood

Genetic analysis pre-lung transplantation diagnosed a case of hereditary pulmonary alveolar proteinosis (PAP) complicated by fibrosis in adulthood. The need for genetic testing in GM-CSF autoantibody negative and unclassifiable PAP is highlighted. https://bit.ly/3QcsYwM.

• Papiris, S. A.
• Louvrier, C.
• Fabre, A.
• Kaklamanis, L.
• Tsangaris, I.
• Frantzeskaki, F.
• Dimeas, I. E.
• Debray, M. P.
• Karakontaki, F.
• Kallieri, M.
• Kolilekas, L.
• Daniil, Z.
• Giatromanolaki, A.
• Kannengiesser, C.
• Borie, R.
• Nathan, N.
• Griese, M.
• Manali, E. D.