Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy.

ABSTRACT:

Rationale

We identified a 6-year-old girl with pulmonary alveolar proteinosis (PAP), impaired granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function, and increased GM-CSF.

Objectives

Increased serum GM-CSF may be useful to identify individuals with PAP caused by GM-CSF receptor dysfunction.

Methods

We screened 187 patients referred to us for measurement of GM-CSF autoantibodies to diagnose autoimmune PAP. Five were children with PAP and increased serum GM-CSF but without GM-CSF autoantibodies or any disease causing secondary PAP; all were studied with family members, subsequently identified patients, and controls.

Measurement and main results

Eight children (seven female, one male) were identified with PAP caused by recessive CSF2RA mutatio

SUBMITTER: Suzuki T 

PROVIDER: S-EPMC3001266 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature