immunodeficiency 100

Term ID

DOID:0061070

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. https://pubmed.ncbi.nlm.nih.gov/34145065/

References

MIM:618042

Ontology

Human Disease ( DOID:0061070 )

Relationships

is a type of: autosomal dominant disease lung disease primary immunodeficiency disease

autosomal dominant disease lung disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models