Mannan-binding lectin deficiency increases the risk of recurrent infections in children with Down's syndrome

Increased Pro-inflammatory Cytokine Production in Down syndrome Children Upon Stimulation with Live Influenza A Virus

“…In addition, changes in the immune system play a special role as potential cause of RTIs in DS children, which we have recently published in a review [15]. Both defects in the innate and the adaptive immunity, for example, mannan-binding lectin deficiency [16], a high number of pro-inflammatory CD14 dim CD16 + monocytes [17], changes in T and B lymphocyte counts [18,19], early aging of the immune system [20,21], an intrinsic defect of T and B lymphocytes [19,22,23], and IgG2 and IgG4 subclass deficiencies [19,[23][24][25][26], have been reported. We hypothesize that one of the reasons that children with DS have a more severe course of viral infections is an altered innate immune response consisting of different cytokine responses.…”

Increased production of interleukin-10 in children with Down syndrome upon ex vivo stimulation with Streptococcus pneumoniae

“…In addition, alterations in the immune system are an important cause of RTIs in DS children (11,12). Defects in both the innate and the adaptive immunity are reported in DS, for example, mannan-binding lectin deficiency (13), a high number of proinflammatory CD14 dim CD16…”

The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome

“…[4] It was evidenced that the MBL2 deficiency increased more than 3-fold risk of RI and pneumonia in DS patients. [6] However, MBL2 genotype had no clear effect on the occurrence of infections in children with DS. In this respect, this is the first report describing an important association between MBL2 gene polymorphisms and DS children.…”

“…demonstrated that MBL2 deficiency increases the susceptibility to RI in DS patients, and that in the future, they could be potentially benefited from MBL2 therapy. [6] Clinical studies have shown that single-nucleotide polymorphisms (SNPs) in MBL2 gene are associated with increased susceptibility to infections. The importance of MBL2 polymorphisms in DS patients is unclear.…”

“…reported that the MBL2 deficiency increased more than 3-fold the risk of RI and pneumonia in DS patients. [6] According to the clinical history, 30.7% of the DS children suffered from RI, MBL2 deficiency was seen in 34.8% of children, compared to 13.5% of the DS children without RI, and 20% of the children with DS (children with RI and without RI). The findings demonstrated that SNPs of the MBL2 gene are risk factors for the development and increase the susceptibility to RI in DS patients, and in the future, they could be potentially benefited from MBL2 therapy.…”