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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-04-2018
Symbol PAPHG
Location 12q24.13
Name Pulmonary alveolar proteinosis (PAP) with hypogammaglobulinemia
Corresponding gene OAS1
Main clinical features
  • infantile-onset leukocytosis without abnormal distribution, splenomegaly, and hyperreactivity were the most prominent findings
  • pulmonary alveolar proteinosis (PAP) is caused by lung surfactant system homeostasis dysfunction
  • Genetic determination
    Function/system disorder defense and immunity
    Type disease
  • heterozygous mutations of OAS1, presumably gain-of-function mutations, might be likely associated with exaggerated immune reaction especially in alveolar macrophages (AMs) in response to viral infections (PMID: 29455859))