Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis

Luigi D Notarangelo; Itai Pessach

doi:10.1084/jem.20082378

Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis

J Exp Med. 2008 Nov 24;205(12):2693-7. doi: 10.1084/jem.20082378. Epub 2008 Nov 17.

Authors

Luigi D Notarangelo¹, Itai Pessach

Affiliation

¹ Division of Immunology, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA. [email protected]

Abstract

Pulmonary alveolar proteinosis (PAP) is a rare disorder in which surfactant homeostasis in the lung is impaired, causing respiratory distress and, in severe cases, respiratory failure. Most cases of PAP are associated with the formation of autoantibodies against the cytokine granulocyte/macrophage colony-stimulating factor (GM-CSF), which is required for normal surfactant homeostasis and lung function. New studies now identify three patients in whom PAP was caused by mutations in the gene encoding the ligand-binding alpha chain of the GM-CSF receptor.

Publication types

Comment

MeSH terms

Animals
Chromosomes, Human, X / genetics
Granulocyte-Macrophage Colony-Stimulating Factor / metabolism
Homeostasis*
Humans
Male
Mice
Mutation*
Protein Subunits / genetics*
Protein Subunits / metabolism
Pulmonary Alveolar Proteinosis* / genetics
Pulmonary Alveolar Proteinosis* / physiopathology
Pulmonary Surfactants / metabolism*
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics*
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / metabolism
Signal Transduction / physiology

Substances

CSF2RA protein, human
Protein Subunits
Pulmonary Surfactants
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor
Granulocyte-Macrophage Colony-Stimulating Factor