G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency

• Published in: International journal of radiation biology Vol. 95; no. 6; pp. 680 - 690
• Main Authors: Mozdarani, Hossein, Kiaee, Fatemeh, Fekrvand, Saba, Azizi, Gholamreza, Yazdani, Reza, Zaki-Dizaji, Majid, Mozdarani, Sahar, Mozdarani, Sohail, Nosrati, Hassan, Abolhassani, Hassan, Aghamohammadi, Asghar
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 03.06.2019
• Subjects: cancer predisposition; chromosomal radiosensitivity; G2-assay; immunodeficiency; LRBA; Chromosomal radiosensitivity; G-assay; Cancer predisposition; LRBA; Immunodeficiency
• ISSN: 0955-3002; 1362-3095; 1362-3095
• DOI: 10.1080/09553002.2019.1577570

Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is an autosomal recessive primary immunodeficiency disease characterized by a CVID-like phenotype, particularly severe autoimmunity and inflammatory bowel disease. This study was undertaken to evaluate radiation sensitivity in 11 LRBA-deficient patients. Therefore, stimulated lymphocytes of the studied subjects were exposed to a low dose γ-radiation (100 cGy) in the G 2 phase of the cell cycle and chromosomal aberrations were scored. Lymphocytes of age-sex matched healthy individuals used in the same way as controls. Based on the G 2 -assay, six (54.5%) of the patients had higher radiosensitivity score comparing to the healthy control group, forming the radiosensitive LRBA-deficient patients. This chromosomal radiosensitivity showed that these patients are predisposed to autoimmunity and/or malignancy, and should be protected from unnecessary diagnostic and therapeutic procedures using ionizing radiation and exposure to other DNA damaging agents.