Article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
Orphanet journal of rare diseases - 26 Nov 2014
Hildebrandt Jenna, Yalcin Ebru, Bresser Hans-Georg, Cinel Guzin, Gappa Monika, Haghighi Alireza, Kiper Nural, Khalilzadeh Soheila, Reiter Karl, Sayer John, Schwerk Nicolaus, Sibbersen Anke, Van Daele Sabine, Nübling Georg, Lohse Peter, Griese Matthias
Abstract excerpt
BACKGROUND: Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide. METHODS: We identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype. Functional impairment of the intracellular JAK/pStat5 signaling...
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