Mannose binding lectin (MBL) gene and promoter-region polymorphisms contribute to a reduction in the levels of circulating MBL in a number of ways. Promoter polymorphisms affect the levels of MBL produced, whilst structurally encoding mutations cause non-functional protein to be assembled and subsequently degraded. MBL is important as a protein of the innate immune system in both the clearance of potential pathogens and the activation of the complement cascade. Using variations of SSP-PCR amplifications and SSO probing techniques, we have produced MBL-polymorphism haplotype and genotype profiles of a series of high-level MBL-producing, low-level MBL-producing and random individuals taken from a population of 800 UK Caucasoid controls. Structurally encoding mutant alleles were more frequent within the low-level producing cohort when compared to both high-level producers and the randomly selected sample. However, not all low-level producers could be accounted for by the possession of low-level encoding haplotypes. This may be due to the presence of additional, undetected polymorphisms governing MBL production, or another external factor that may influence the transcriptional regulation of the gene.

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The etiopathogenesis of systemic sclerosis (SSc) is unclear. With no definitive evidence supporting an environmental cause, recent attention has focused on genetic factors. Familial clustering and ethnic influences have been demonstrated. Human leukocyte antigen (HLA) associations exist but are more related to the presence of particular autoantibodies rather than to the disease. In addition, no single major histocompatibility complex (MHC) allele predisposes to SSc in all ethnic groups. The role of microchimerism in SSc is a novel yet unproven hypothesis that may be related to intergenerational HLA compatibility. Recent studies investigating polymorphisms in genes coding for extracellular matrix proteins and cell-signaling molecules implicate non-MHC areas in SSc pathogenesis. The data reviewed suggest that SSc is a multigenic complex disorder.

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Vibrio vulnificus is an invasive gram-negative bacillus that may cause necrotizing cellulitis, bacteremia, and/or sepsis. Although V vulnificus infection is uncommon, it is frequently fatal and is usually attributed to ingestion of raw shellfish or traumatic exposure to a marine environment; patients are also often found to have a hepatic disorder (cirrhosis, alcohol abuse, or hemochromatosis) or an immunocompromised health status, and most commonly present with septicemia or a wound infection. We describe a patient who presented with septic arthritis as the first clinical manifestation of a V vulnificus infection. The organism was subsequently identified in a synovial fluid aspirate.