Disorders of CTLA-4 expression, how they lead to CVID and dysregulated immune responses. Issue 6 (December 2019)

• Record Type: Journal Article
• Authors: Sun, Di; Heimall, Jennifer
• Is Part Of: Current opinion in allergy and clinical immunology. Volume 19:Issue 6(2019:Dec.)
• Publication Date: 2019-12
• Subjects: abatacept -- CTLA-4 -- CVID -- differentially expressed in FDCP6 homolog -- lipopolysaccharide responsive beige-like anchor protein; Allergy -- Periodicals; Clinical immunology -- Periodicals; Hypersensitivity; Immunity; Immune System Diseases; Allergy and Immunology; 616.079
• DOI: 10.1097/ACI.0000000000000590
• Languages: English
• ISSNs: 1528-4050

Abstract

Abstract : Purpose of review: The landscape of common variable immunodeficiency disorder (CVID) is rapidly evolving as the availability of next-generation sequencing leads to the discovery of new monogenic causes with the clinical phenotype of CVID. Herein, the biology of cytotoxic T lymphocyte-associated protein four (CTLA-4), differentially expressed in FDCP6 homolog (DEF6), and lipopolysaccharide responsive beige-like anchor protein (LRBA), and their impact on the development of a dysregulated, rather than an isolated, infectious phenotype of CVID are explored. Recent findings: The broad clinical phenotype associated with these monogenic forms of CVID is described, and common approaches to treatment are reviewed. Summary: Knowledge of the biology, clinical manifestations, and treatment options trialed thus far in patients with CTLA-4 insufficiency, DEF6 deficiency, and LRBA deficiency are essential in the consideration and effective management of patients with CVID stemming from these monogenic causes.