Disease association ontology term - MONDO:0030519 - agammaglobulinemia 9, autosomal recessive
Term summary
- ID
- MONDO:0030519
- Name
- agammaglobulinemia 9, autosomal recessive
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.
