Mannose-binding lectin polymorphisms in common variable immunodeficiency

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to infections, autoimmunity and malignancies. This study was performed to analyze the Mannose-binding lectin (MBL) polymorphisms in Iranian patients with CVID. Thirty-five CVID patients who were treated at Children's Medical Center and 100 matched controls were enrolled in this study. Sixth single-nucleotide polymorphisms of the MBL gene were analyzed using PCR-SSP method. Comparison of MBL exon 1 coding alleles between patients and controls revealed that A allele (wild-type) was significantly decreased in CVID group, whereas B allele was overrepresented in the patient group. High frequency of heterozygous (A/O) in the patient group and high frequency of homozygous for wild-type coding regions in the control group were detected. Comparison of MBL haplotype promoters between CVID patients and controls showed that LYPB haplotype was significantly overrepresented in the CVID group. Mutant and low-producing MBL alleles and haplotypes might reflect as an associated genetic factor in CVID patients, which could play as a susceptibility factor in CVID.

Low ficolin-2 levels in common variable immunodeficiency patients with bronchiectasis

“…Although the overall relevance of MBL deficiency is still in debate [3], a modifying role in states of pre-existing deficiency or immaturity of the immune system is undisputed [4]. In line with these observations, we and others have studied the involvement of MBL SNPs in the pathogenesis of CVID [5][6][7], and found them to influence the age of onset [7] and disease complications such as autoimmunity [7] and bronchiectasis [6]. In CVID patients MBL serum levels might influence the susceptibility for developing bronchiectasis and the occurrence of other chronic conditions of the respiratory tract, but not on the number of acute respiratory tract infections [6].…”

Systemic lupus erythematosus as a first presentation of common variable immunodeficiency associated with infrequent mannose-binding lectin gene polymorphisms

“…MBL enhances opsonisation of different mannose -rich microorganisms and it takes part in complement activation pathway that is an important component of the innate immunity, the others important functions of MBL are recognition of altered self structures, and modulation of the inflammation [14]. MBL has shown to bind and clear-out DNA molecules [15], its deficiency appears to mildly increase susceptibility to SLE and associations between SLE and different MBL polymorphisms have been also reported [16].…”