Term Name:	immunodeficiency 100
Synonyms:	immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia
Definition:	A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.
Ontology:	Human Disease [DOID:0061070]   ( DOID:0061070 )