Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. (17th February 2022)

• Record Type: Journal Article
• Authors: Salami, Fereshte; Fekrvand, Saba; Yazdani, Reza; Shahkarami, Sepideh; Azizi, Gholamreza; Bagheri, Yasser; Delavari, Samaneh; Shariati, Sahar; Mahdaviani, Seyed Alireza; Nabavi, Mohammamd; Shirkani, Afshin; Abolhassani, Hassan; Samadi, Morteza; Aghamohammadi, Asghar
• Is Part Of: Immunological investigations. Volume 51:Number 2(2022)
• Page Start: 381
• Page End: 394
• Publication Date: 2022-02-17
• Subjects: Common variable immunodeficiency (CVID) -- early-onset occurrence -- autoimmunity -- enteropathy -- lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) -- cytotoxic T lymphocyte-associated antigen-4 (CTLA-4); Immunology -- Periodicals; Immunochemistry -- Periodicals; Cellular immunity -- Periodicals; Communicable diseases -- Periodicals; 616.079
• DOI: 10.1080/08820139.2020.1833029
• Languages: English
• ISSNs: 0882-0139

Abstract

ABSTRACT: Common variable immunodeficiency (CVID) is a primary immunodeficiency disease with a heterogeneous genetic background. Lipopolysaccharide-responsive beige-like anchor (LRBA), as well as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), have important regulatory roles in the immune responses. Here, we have investigated the expression of LRBA and CTLA-4 proteins in CVID patients with at least one presentation of early-onset occurrence, autoimmunity, or enteropathy. In this study, 20 newly diagnosed CVID patients without infection only phenotype, and ten healthy individuals were enrolled. The expressions of LRBA and CTLA-4 proteins were assessed by western blotting and flow cytometry, respectively. The patients were divided into two groups of autoimmunity-positive (11 cases) and autoimmunity-negative (9 patients). LRBA and CTLA-4 expressions were significantly lower in autoimmune-positive patients than in healthy individuals ( P = .03 and P = .03, respectively). Autoimmune-negative patients had lower expression of LRBA and CTLA-4 than the control group, although it was not significant. There was a positive correlation between the expressions of LRBA and CTLA-4 in both groups of patients ( P < .05). Furthermore, the highest frequency of LRBA (85.7%) and CTLA-4 (71.4%) defects was detected in those with concomitant presence of autoimmunity, enteropathy, and early-onset occurrence. Concurrent presence of autoimmunity, enteropathy, and early-onset occurrence in CVID patients could be indicative of a lack of expression in LRBA and CTLA-4 proteins. This could be helpful in early diagnosis and initiation of appropriate treatment in these patients prior to genetic confirmation.