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

Abstract

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 G₂ 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 G₂-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.

Keywords:

• LRBA
• immunodeficiency
• G2-assay
• chromosomal radiosensitivity
• cancer predisposition

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by the vice chancellor for research, Tehran University of Medical Sciences, under Grant Number 35730-154-02-96.

Notes on contributors

Hossein Mozdarani

Dr. Hossein Mozdarani is PhD of medical genetics at Tarbiat Modares University, Tehran, Iran. His research interest is clinical and molecular studies of genetic in immunodeficiencies.

Fatemeh Kiaee

Fatemeh Kiaee is PhD student of immunology at the Shahid Beheshti University of Medical Sciences, Tehran, Iran. Her research interest is molecular and cellular studies of primary immunodeficiencies.

Saba Fekrvand

Saba Fekrvand is MD student at the Tehran University of Medical Sciences, Tehran, Iran. Her research interest is molecular and cellular and clinical studies of primary immunodeficiencies.

Gholamreza Azizi

Dr. Gholamreza Azizi is PhD of medical immunology at the Tehran University of Medical Sciences, Tehran, Iran. His research interest is molecular and cellular and clinical studies of primary immunodeficiencies.

Reza Yazdani

Dr. Reza Yazdani is PhD of medical immunology at the Tehran University of Medical Sciences, Tehran, Iran. His research interest is molecular and cellular and clinical studies of primary immunodeficiencies.

Majid Zaki-Dizaji

Dr. Majid Zaki-Dizaji is PhD of medical genetics at the Tehran University of Medical Sciences, Tehran, Iran. His research interest is molecular studies of genetic in primary immunodeficiencies.

Sahar Mozdarani

Sahar Mozdarani is Master of Science in genetics at Chamran Medical Building, Tehran, Iran. Her research interest is molecular studies of genetic in primary immunodeficiencies.

Sohail Mozdarani

Sohail Mozdarani is Master of Science in genetics at Alborz University of Medical Sciences, Karaj, Iran. His research interest is molecular studies of genetic in primary immunodeficiencies.

Hassan Nosrati

Hassan Nosrati is Master of Science in genetics at Imam Khomeini Hospital, Tehran, Iran. His research interest is molecular studies of genetic in primary immunodeficiencies.

Hassan Abolhassani

Hassan Abolhassani is PhD of immunology and doctor of medicine at Karolinska Institute at the Karolinska University Hospital Huddinge, Stockholm, Sweden. His research interests are immunogenetic studies of primary immunodeficiencies.

Asghar Aghamohammadi

Asghar Aghamohammadi is PhD of immunology and doctor of medicine at the Tehran University of Medical Sciences, Tehran, Iran. His primary research interests are clinical and molecular studies of primary immunodeficiencies.