Disease association ontology term - MONDO:0030693 - immunodeficiency 96
Term summary
- ID
- MONDO:0030693
- Name
- immunodeficiency 96
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.
