Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia (IMD100)

Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia, also known as pulmonary alveolar proteinosis with hypogammaglobulinemia, is related to infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia is OAS1 (2'-5'-Oligoadenylate Synthetase 1). Affiliated tissues include lung and monocytes, and related phenotypes are respiratory insufficiency and splenomegaly