Personalized therapy for common variable immunodeficiency
Common variable immunodeficiency (CVID) represents a clinical descriptive diagnosis that was defined in the 1970s. Despite the vast increase in knowledge with regard to immune function and genetics, the pathophysiology of this disorder remains poorly understood in the majority of patients (75%); however, recent advances have led to a much clearer understanding of this heterogeneous group of disorders in the remaining 25%. These advances, along with developments in immune modulatory and reconstitution therapies, now permit sophisticated and specific targeting of therapies for individual patients.
A literature review and author experience.
For > 50 years, immune globulin therapy has been applied to patients with CVID. There are several options open to patients, including a diversity of products and modes of administration. Stem cell therapy is increasingly applicable in patients with severe immune dysregulation. In some disorders (e.g., lipopolysaccharide-responsive and beige-like anchor protein, and cytotoxic T lymphocyte antigen 4 deficiencies), knowledge of the genetic basis and molecular pathophysiology permit targeted therapy by using small-molecule immune modulators and biologics.
In the near future, it is likely that further advances in understanding the pathophysiology of CVID, together with ongoing development of biologics and small-molecule immune modulators will lead to additional targeted therapies for these patients.
Keywords: CTLA4 deficiency; LRBA deficiency; Personalized medicine; abatacept; antibody deficiency; belatacept; biologic therapy; common variable immunodeficiency; genetic testing; immunoglobulin therapy; primary immunodeficiency; sirolimus; stem cell therapy
Document Type: Research Article
Publication date: January 1, 2020
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