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Pemphigoid gestationis
Published in Lionel Fry, Atlas of Bullous Diseases, 2020
PG is dependent on paternally derived antigens which are present in the fetus, and occasionally in a hydatidiform mole or choriocarcinoma. There is a higher incidence of HLA-DR2 in fathers compared with the general population. It is thought that, because of differences in HLA antigens between mother and fetus, an immune response is triggered which results in damage to the maternal skin. There is evidence of immune activation in the placenta and of placental insufficiency.
Uveitis
Published in Mostafa Khalil, Omar Kouli, The Duke Elder Exam of Ophthalmology, 2019
Mostafa Khalil, Omar Kouli, Obaid Kousha
This clinical presentation occurs due to Histoplasma capsulatum (dimorphic fungi). Associated with HLA-B7 and HLA-DR2. Famously occurs in Ohio, Mississippi, and St Lawrence River valleys. More common in patients with AIDS.
Genetic Aspects of Interstitial Lung Disease
Published in Lourdes R. Laraya-Cuasay, Walter T. Hughes, Interstitial Lung Diseases in Children, 2019
Varpara et al. found the association between the D locus and IPF.23 Recently, Libby et al. found that persons with HLA DR2 locus, have 2½ times greater chance to develop this condition.24 This locus was found in 65% of patients while only 26% of the controls have this locus.
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].
Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis
Published in Ophthalmic Genetics, 2021
Vaida Punyte, Alvita Vilkeviciute, Greta Gedvilaite, Loresa Kriauciuniene, Rasa Liutkeviciene
Talking about allelic gender differences, sex hormones or sex-linked gene inheritance may be responsible for the enhanced susceptibility of females to MS. Lambalgen et al. have reported an association of HLA-DR2 with female MS, but not with male MS (50). Scientists have stated that when the pathogenic factors of MS are being investigated, it is important to study female and male patients separately (51–52). Gender-related differences in both humoral and cellular immune responses are well documented (52), and these differences may affect the associations of HLA alleles with MS. Our research also proved that in the female ON group VEGFA rs1413711 C was more frequent than in the male ON group (57.7% vs. 42.8%, respectively (p = .011)), so we agree with other studies, that genotypes and alleles must be evaluated in males and females separately. In literature, we could only find allelic gender differences in the MS group, but we proved these differences in the ON group.
Treatment of pemphigus vulgaris: part 2 – emerging therapies
Published in Expert Review of Clinical Immunology, 2019
Rebecca L. Yanovsky, Michael McLeod, A.Razzaque Ahmed
This example parallels the exploratory landscape of many aforementioned and other targeted therapies currently being explored for the treatment of PV. Stern et al. showed that the approach described above, linking copolymers with modified amino acid sequences to facilitate binding to particular HLA-DR2 alleles associated with disease, led to halting of disease progression and suppression of pathologic evidence of experimental autoimmune encephalomyelitis (EAE). This is a form of multiple sclerosis (MS) induced in mouse models [76]. This was subsequently used to develop drug PI-2301, an immunomodulator trialed for patients with relapsing remitting MS. Phase 1 trials did not report any serious adverse events. Increased dosages of the molecule showed decreased T cell proliferation in mice. This suggested that it may have immunomodulatory benefits in patients with MS. The proposed pathophysiology of amino acid copolymers in the treatment of MS was a combined effect on both antigen-presenting cells and T cells leading to bystander suppression. This mechanism could have induced expansion of T cells producing IL-13 and minimize the production of chemokines CXCL9 and 10, which interacted with Th1 cells during the pathogenesis of the MS disease process [77]. Based on the success reported by Stern et al. in animal models, this approach was investigated in other immune conditions, including PV. However, as described above it did not produce the desired results.