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Essay On Common Variable Immunodeficiency

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Common variable immunodeficiency (CVID) is a humoral disorder that impairs the function of the immune system. It affects approximately 1 in 25,000-50,000 individuals, with prevalence varying among populations. Individuals with CVID are vulnerable to foreign invaders, often resulting in sinopulmonary infections that can lead to further complications. The disease is characterised by low serum antibody levels (Boileau et al., 2011) and recurrent infection. Pathogenesis In most cases, the cause of CVID is undetermined. However, for 10% of cases, the genetic cause of CVID has been identified. Numerous mutations in genes responsible for the function and maturation of immune cells have been associated with the development of CVID, including …show more content…

Th17 cells are a subset of CD4+ helper T cells which provide host defence against extracellular bacterial and fungal infections, and play a role in the inflammatory response. Furthermore, Th17 cells enable B cell differentiation. Abnormalities in T cell function has been associated with the development of granulomas (Giovannetti et al., 2007). Additionally, susceptibility to CVID has also being linked to the DR-DQ haplotypes of the Major Histocompatibility Complex (MHC) (Olerup, Smith, Björkander, & Hammarström, 1992). Autosomal dominant and autosomal recessive inheritance have been observed in families with CVID. However most cases of CVID occur sporadically (Olerup et al., 1992), and are primarily caused by genetic mutation. Symptoms CVID typically manifests during early adulthood, often resulting in acute and chronic infections, inflammatory and autoimmune diseases, and an increased risk of cancer. Individuals with CVID suffer from a deficiency of IgG, IgA and/or IgM (Cunningham-Rundles & Maglione, 2012). The range of serum immunoglobulin levels is highly variable (Chapel & Cunningham-Rundles, 2009). Vaccines are ineffective for individuals with CVID as the immune system is unable to mount an antibody response to an antigen. CVID patients are unable to produce antibodies, and thus are frequently infected by extracellular bacteria such as Haemophilus influenzae, Streptococcus pneumoniae and

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