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Sexually Transmitted Diseases
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
The role of cell-mediated immune responses in HPV infection is suggested by the association of HLA-DQw3 and HLA-DR5 and the biology of SCC of the cervix: HLA-DR5 is associated with increased risk.
Allergic bronchopulmonary aspergillosis
Published in Mahmoud A. Ghannoum, John R. Perfect, Antifungal Therapy, 2019
It is hypothesized that ABPA develops in asthmatic and CF patients due to a combination of genetic susceptibility factors. Genetic studies suggest that HLA-DR2 and DR5 (possibly DR4, DR7) restriction is associated with increased susceptibility to ABPA [10,11]. Furthermore, within HLA-DR2 and HLA-DR5, there are restricted genotypes. In particular, HLA-DRB1*1501, -DRB1*1503, -DRB1*1104, -DRB1*1101, -DRB1*04 and -DRB1*0701 were reported to provide high relative risk. Whereas HLA-DQ2 molecules (especially -DQB1*0201) are associated with resistance [12]. Single nucleotide polymorphisms (SNP) of the IL-4 receptor alpha chain (IL-4Ra) was also reported as a likely susceptibility factor that leads to an increased sensitivity to IL-4 stimulation [13], which, in turn, increases expression of other receptors, including CD23 and CD86 on B cells, and IgE isotype switching and IgE synthesis [14]. IL-10 polymorphisms were shown to be associated with Aspergillus colonization and the development of ABPA in patients with CF [15]. Single nucleotide polymorphisms (SNP) of the IL-13 previously reported to be associated with atopy and asthma may also be important with the development of ABPA [16]. Also, single nucleotide polymorphisms (SNPs) in the collagen region of surfactant proteins A1 (SP-A2) and mannose binding lectin (MBL) may contribute to differential susceptibility of the host to ABPA [17–19]. Susceptibility to allergic bronchopulmonary aspergillosis was also associated with polymorphism of Toll-like receptor 9 [20]. Another possible association of ABPA with duplication of the CHIT1 gene has been reported [21]. CHIT1 gene encodes chitotriosidase, an enzyme that catalyzes the cleavage of chitin present in fungal cell walls, and duplication in the gene is associated with decreased levels and enzymatic activity of chitotriosidase. Interestingly, there is a possible pathogenetic link between CFTR mutations and ABPA [22].
Laboratory biomarkers in the diagnosis and follow-up of treatment of allergic bronchopulmonary aspergillosis in cystic fibrosis
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Sophie Steels, Marijke Proesmans, Xavier Bossuyt, Lieven Dupont, Glynis Frans
Some studies have suggested increased chances of Aspergillus colonization (mainly Af) of the airways and subsequent development of ABPA in patients with CF with specific CF transmembrane conductance regulator gene mutations (e.g. ΔF508 and R117H) [23–25]. Pulmonary surfactant-associated protein-A2 polymorphisms, elevated mannose-binding lectin levels, and TLR polymorphisms are also associated with the development of ABPA [23]. Genetic research of human leukocyte antigens (HLA) has demonstrated that HLA-DR2 and HLA-DR5 are risk factors for ABPA, while HLA-DQ2 is a protective element [23]. Vitamin D deficiency has been proposed as a pathogenetic factor in CF complicated by ABPA (CF-ABPA) [26,27]; however, its role in asthma complicated by ABPA (asthma-ABPA) is uncertain [28,29].