RAD50 Single-Nucleotide Polymorphism in Predominantly Antibody Deficiency

Nemati S, Amirzargar AA, Farhadi E, Hirbod-Mobarakeh A, Nabavi M, Soltani S, Mahdaviani S, Shahinpour S, Arshi S, MirAhmadian M, Nicknam MH, Aghamohammadi A, Rezaei N

Pediatric Respiratory Diseases Research Centre, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Common variable immunodeficiency (CVID) and selective IgA deficiency (SIgAD) constitute 2 important predominantly antibody deficiencies. Patients with CVID usually have reduced levels of at least 2 immunoglobulin isotypes, predisposing them to a number of infections, while patients with SIgAD simply have reduced levels of serum IgA and may be asymptomatic [1-4]. Some patients with SIgAD also have IgG subclass deficiency and may occasionally progress to CVID [5]. RAD50, which has a major role in several steps of DNA mismatch repair (MMR), seems to be associated with SIgAD and CVID [6]. The present study was performed to evaluate the association between RAD50 and susceptibility to SIgAD or CVID in an Iranian population. Thirty-nine patients with CVID (21 males and 18 females) and 19 patients with SIgAD (10 males and 9 females) from leading referral hospitals in Tehran, Iran, were enrolled in this study. All the patients were diagnosed according to the standard criteria, defined by the International Union of Immunological Societies: Primary Immunodeficiency Diseases Classification Committee [7]. Thirty-four healthy individuals (20 males and 14 females) were included as the control group. Informed consent was obtained from all participants before sampling, and the study was approved by the ethics committee of Tehran University of Medical Sciences.
Keywords: Common variable immunodeficiency; IgA deficiency; Genetic susceptibility; Single nucleotide polymorphism; RAD50

Download ZIP

Download PDF

J Investig Allergol Clin Immunol 2015; Vol. 25(4): 295-315