Golestan University of Medical Sciences Repository

The profile of IL-4, IL-5, IL-10 and GATA3 in patients with LRBA deficiency and CVID with no known monogenic disease: Association with disease severity

Azizi, G. and Bagheri, Y. and Yazdani, R. and Zaki-Dizaji, M. and Jamee, M. and Jadidi-Niaragh, F. and Kamali, A.N. and Abolhassani, H. and Aghamohammadi, A. (2019) The profile of IL-4, IL-5, IL-10 and GATA3 in patients with LRBA deficiency and CVID with no known monogenic disease: Association with disease severity. Allergologia et Immunopathologia, 47 (2). pp. 172-178.

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Background: Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency (PID). LPS-responsive beige-like anchor protein (LRBA) deficiency is an autosomal recessive disease characterized by a CVID-like phenotype. T cell abnormality was reported in patients with CVID and LRBA deficiency. The study's aim was to evaluate IL-4, IL-5, IL-10 and GATA3 expression in patients with LRBA deficiency and CVID with no known monogenic disease, and further evaluate its relevance with immunological futures and clinical complications of patients. Methods: The study population comprised patients with CVID, LRBA deficiency and age�sex matched healthy controls. Mutation analysis was done by whole exome sequencing in CVID patients to rule out monogenic PIDs. After CD4+ T cell stimulation with anti-CD3 and anti-CD28 monoclonal antibodies, gene expression of IL-4, IL-5, IL-10 and transcription factor GATA3 was evaluated by real-time polymerase chain reaction. The protein of mentioned cytokines was assessed by enzyme-linked immunosorbent assay. Results: The main clinical presentations of CVID patients were infections only and lymphoproliferations phenotypes, but in LRBA patients were autoimmune and enteropathy phenotype. The frequencies of CD4 + T cells were significantly reduced in LRBA and CVID patients. There were no statistically significant differences among GATA3, IL4, and IL5 gene expressions by CD4 + T cells of patients and controls, however, the IL10 expressions in CVID patients was significantly lower than in LRBA patients and HCs. As compared with HCs, CVID patients showed a prominent decrease in IL-4 and IL-10 production by CD4 + T cells. Conclusions: Our findings demonstrated that patients with CVID and LRBA deficiency (even with severe infectious and inflammatory complications) have not imbalance in Th2 response, which is in parallel with lower frequency of allergy and asthma in these patients. © 2018 SEICAP

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: interleukin 10; interleukin 4; interleukin 5; transcription factor GATA 3, adolescent; adult; Article; autosomal recessive disorder; blood sampling; CD4+ T lymphocyte; cell stimulation; child; clinical article; common variable immunodeficiency; comparative study; controlled study; disease registry; disease severity; enzyme linked immunosorbent assay; female; gene expression; genetic analysis; human; immune deficiency; lipopolysaccharide responsive beige like anchor; lymphocyte proliferation; male; monogenic disorder; peripheral blood mononuclear cell; real time polymerase chain reaction; whole exome sequencing
Subjects: QU بیوشیمی
آسیب شناسی QZ
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 01 Jul 2019 04:02
Last Modified: 01 Jul 2019 04:02
URI: http://eprints.goums.ac.ir/id/eprint/10175

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