Alternative titles and symbols : Csf2rb deficiency; Pap due to csf2rb deficiency; Pulmonary alveolar proteinosis 5;
Description : Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung
disorder manifest clinically and pathologically as pulmonary alveolar proteinosis.
Pulmonary alveolar proteinosis is a rare lung disease characterized by the ineffective
clearance of surfactant by alveolar macrophages. This results in the accumulation
of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles,
causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general
phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant
metabolism dysfunction, see SMDP1 (265120).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor,
beta (CSF2RB, 138981.0001);
Laboratory abnormalities : Increased serum GM-CSF; Impaired response to GM-CSF;