Pathology
point mutation in the CSF2RB gene in pulmonary alveolar proteinosis (PAP) (MIM.265120) (9694696)
References
Dirksen, U.; Hattenhorst, U.; Schneider, P.; Schroten, H.; Gobel, U.; Bocking, A.; Muller, K.-M.; Murray, R.; Burdach, S.: Defective expression of granulocyte-macrophage colony-stimulating factor/interleukin-3/interleukin-5 receptor common beta chain in children with acute myeloid leukemia associated with respiratory failure. Blood 92: 1097-1103, 1998. PubMed ID : 9694696
Dirksen, U.; Nishinakamura, R.; Groneck, P.; Hattenhorst, U.; Nogee, L.; Murray, R.; Burdach, S. : Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J. Clin. Invest. 100: 2211-2217, 1997. PubMed ID : 9410898