scholarly journals HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients

2021 ◽  
Author(s):  
The Bich Thanh Vuong ◽  
Duc Minh Do ◽  
Phuc Thinh Ong ◽  
Thai Van Thanh Le
Keyword(s):  
Clinical Manifestations ◽  
Pemphigus Vulgaris ◽  
Class Ii ◽  
Hla Class Ii ◽  
Control Group ◽  
Direct Immunofluorescence ◽  
Pemphigus Foliaceus ◽  
High Morbidity ◽  
Increased Risk ◽  
Life Threatening

Background: Pemphigus is a group of rare, life-threatening bullous autoimmune diseases that affect the skin and mucous membranes and are associated with high morbidity and morbidity. HLA class II genes, particularly HLA-DRB1 and HLA-DQB1, play roles in pemphigus. Objectives: To investigate the susceptibility of HLA class II DRB1 and DQB1 alleles in Vietnamese patients with pemphigus vulgaris (PV) or pemphigus foliaceus (PF). Methods: The study enrolled 31 participants (22 with PV, 9 with PF) with diagnoses confirmed by clinical manifestations, histopathology, and direct immunofluorescence from November 2019 to June 2020. The HLA polymorphisms were determined by Sanger sequencing. The HLA-DRB1 and HLA-DQB1 profiles of the 101 healthy individuals in the control group have been published previously. Results: The frequencies of HLA-DRB1*14, DRB1*13:07, DRB1*04:04, DRB1*03:02, DQB1*02:02, and DQB1*05:03 were significantly higher, whereas those of DRB1*09:01, DRB1*12:02, DQB1*03:03, DQB1*05:01, and DQB1*06:01 were significantly lower, in the PV group than in the controls. The frequencies of DRB1*14:54, DRB1*13:07, and HLA-DQB1*03:02 were significantly higher in the PF group than in the controls. Conclusions: Alleles HLA-DRB1*14:54, DRB1*14:04, DRB1*14:03, DRB1*14:01, DRB1*14:12, DRB1*13:07, DRB1*04:04, DRB1*03:02, DQB1*02:02, and DQB1*05:03 were associated with an increased risk of PV, whereas alleles DRB1*09:01, DRB1*12:02, DQB1*03:03, DQB1*05:01, and DQB1*06:01 might protect against PV. In PF, DRB1*14:54, DRB1*13:07, and HLADQB1* 03:02 are promising susceptibility alleles.

scholarly journals HLA Class II-DRB,-DQA and –DQB Genotypes in Peripheral Blood Shows Shifts During the Course of Sepsis

2019 ◽  
Vol 73 (1) ◽  
pp. 10-16
Author(s):  
Linda Bāra ◽  
Jeļena Eglīte ◽  
Pēteris Ošs ◽  
Vinita Cauce ◽  
Vilnis Lietuvietis ◽  
...  
Keyword(s):  
Human Leukocyte ◽  
Class Ii ◽  
Hla Class Ii ◽  
University Hospital ◽  
Control Group ◽  
Hla Dr ◽  
Group Data ◽  
Threatening Condition ◽  
Life Threatening ◽  
Genetically Determined

Abstract Undeniably, sepsis is still a profoundly damaging and life-threatening condition for many individuals. With multiple changes in sepsis patients it is difficult to precisely classify an individual’s response in sepsis as proinflammatory or immunosuppressed. The aim of this study was to investigate genetically determined predisposition to developed sepsis by analysis of distribution of human leukocyte antigen (HLA) class II genes. Samples from patients with sepsis were collected at Pauls Stradiņš Clinical University Hospital, Latvia, in an intensive care unit between October 2016 and May 2017. The study group included 62 patients with sepsis, who were genotyped for HLA-DR; DQ using real time polymerase chain reaction – sequence specific primer (RT PCR-SSP). As a control group, data of 100 individuals were taken from the genetic bank of RSU Joint Laboratory of Clinical Immunology and Immunogenetics. The summarised results showed that the frequency of alleles DRB1*04:01 (OR = 5.54; 95% CI = 1.88–16.29); DRB1*07:01 (OR = 19.03; 95% CI = 2/37–152.82); DQA1*05:01 (OR = 14.17; 95% CI = 5.67–35.4); and DQB1*02:01 (OR = 50.00; 95% CI = 2.90–861.81) were significantly increased in patients with sepsis compared to the control group patients. The frequency of DRB1*16:01 (OR = 0.17, 95% CI = 0.04–0.59); DRB1*17:01 (OR = 0.04; 95% CI = 0.00–0.69); DQA1*01:01 (OR = 0.04; 95% CI = 0.00–0.31); DQA1*01:02 (OR = 0.03; 95% CI = 0.00–0.23); DQB1*02:02 (OR = 0.12; 95% CI = 0.03–0.42) alleles was lower in sepsis patients than in control subjects. The most frequent HLA-DRB1/DQA1/DQB1 haplotypes that was significantly increased in patients with sepsis were: DRB1*01:01/DQA1*05:01/DQB1*03:01 (OR = 12.6; 95% CI = 1.51–105.0; p < 0.003). Sepsis patients with pneumonia and alleles and DRB1 04:01; 07:01, DQB1 02:01 had the highest mortality rate. Undoubtedly, our preliminary data showed that development of sepsis can be associated with alleles and haplotypes of HLA class II genes. For more precise conclusion the research should be continued to include a larger patient group.

scholarly journals The Significance of Scalp Involvement in Pemphigus: A Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Marta Sar-Pomian ◽  
Lidia Rudnicka ◽  
Malgorzata Olszewska
Keyword(s):  
Web Of Science ◽  
Clinical Manifestations ◽  
Pemphigus Vulgaris ◽  
Hair Follicles ◽  
Response To Treatment ◽  
Direct Immunofluorescence ◽  
Pemphigus Foliaceus ◽  
Medical Databases ◽  
Scalp Lesions ◽  
Reliable Diagnostic Method

Scalp is a unique location for pemphigus because of the abundance of desmogleins localized in hair follicles. Scalp involvement is observed in up to 60% of patients in the course of pemphigus. The lesions may occasionally lead to alopecia. Unforced removal of anagen hairs in a pull test is a sign of high disease activity. Direct immunofluorescence of plucked hair bulbs is considered a reliable diagnostic method in patients with pemphigus. Follicular acantholysis is a characteristic histopathological feature of pemphigus lesions localized on the scalp. Trichoscopy may serve as a supplementary method in the diagnosis of pemphigus. This review summarizes the most recent data concerning scalp involvement in pemphigus vulgaris and pemphigus foliaceus. A systematic literature search was conducted in three medical databases: PubMed, Embase, and Web of Science. The analysis included literature data about desmoglein distribution in hair follicles, as well as information about clinical manifestations, histopathology, immunopathology, and trichoscopy of scalp lesions in pemphigus and their response to treatment.

HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

2000 ◽  
Vol 15 (1) ◽  
pp. 67-73 ◽  
Author(s):  
Pascale Loiseau ◽  
Laurence Lecleach ◽  
Catherine Prost ◽  
Virginia Lepage ◽  
Marc Busson ◽  
...  
Keyword(s):  
Pemphigus Vulgaris ◽  
Class Ii ◽  
Hla Class Ii ◽  
Pemphigus Foliaceus

Comparative analysis of polymorphic variants of IL-17A and MMP-1 genes with the risk of developing chronic periodontitis in petrochemical workers

2020 ◽  
Vol 60 (10) ◽  
pp. 687-693
Author(s):  
Iskander I. Zaidullin ◽  
Denis O. Karimov ◽  
Lilija K. Karimova ◽  
Milyausha F. Kabirova ◽  
Rasima R. Galimova ◽  
...  
Keyword(s):  
Ethylene Oxide ◽  
Chronic Periodontitis ◽  
Periodontal Diseases ◽  
Clinical Manifestations ◽  
Control Group ◽  
Periodontal Tissues ◽  
Dental Examination ◽  
Number Of Patients ◽  
Increased Risk ◽  
Harmful Substances

The susceptibility to the development and progression of inflammatory periodontal diseases, which depends on genetic and external factors (smoking, stress, oral hygiene), varies widely. In the development of these diseases, an important role is played not only by the presence of periodontal pathogenic microorganisms, but also by the presence of congenital or acquired immunodeficiency, immunoregulatory defects. The immune system plays a key role in the physiological and pathological processes of periodontal tissues. In this regard, IL17, produced by CD4+ Th cells, which has both Pro-inflammatory and protective activity, is of particular interest in the pathogenesis of periodontitis. The aim of study was to identify the relationship between polymorphic loci of the IL-17A (rs2275913) and MMP-1 (rs1799750) genes and clinical manifestations of chronic periodontitis in petrochemical workers. Dental examination was performed in 92 ethylene oxide production workers with chronic periodontitis and 74 patients with chronic periodontitis who did not come into contact with chemical factors (control group). Genotyping of polymorphisms rs2275913 of the IL17A gene and rs1799750 of the MMP1 gene was performed by allele-specific real-time polymerase chain reaction (PCR). Hygienic assessment of the degree of air pollution of the working area with harmful substances was carried out by gas chromatography according to the guidelines for the determination of harmful substances in the air № 5098-89, № 3119-84. When comparing the results of studies of both groups, there were no statistically significant differences in the frequency distributions of allelic variants and genotypes of the IL-17A and MMP-1 genes. The AA/AG genotypes of the IL-17A gene were associated with an increased risk of severe disease compared to the GG genotype in workers in the main group (OR=6.1; 95% CI 1.33-28.5; p=0.021) and in the control group (OR=7.26; 95% CI 1.34-39.25; p=0.016). Carriers of the A allele in the control group increased the risk of severe chronic periodontitis by 2.4 times compared to carriers of the G allele (OR=2.41; 95% CI 1.19-4.87; p=0.014). During the dental examination of employees of the ethylene oxide plant, the clinical course of periodontal diseases was more severe in comparison with the control group, and the number of patients with severe periodontitis was twice as high. It was found that the AA/AG genotypes of the IL-17A gene and the carrier of the A allele are associated with increased susceptibility to the development of severe chronic periodontitis. The association between the MMP-1 gene polymorphism and the risk of severe forms of chronic periodontitis has not been established. A risk factor for the development of inflammatory periodontal diseases in employees of the petrochemical complex is a complex of harmful production factors.

scholarly journals Maternal Near Miss in Patients with Systemic Lupus Erythematosus

2021 ◽  
Author(s):  
Arlley Cleverson Belo Silva ◽  
Sue Yazaki Sun ◽  
Felipe Favorette Campanharo ◽  
Letícia Tiemi Morooka ◽  
José Guilherme Cecatti ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Maternal Death ◽  
Lupus Erythematosus ◽  
Neonatal Death ◽  
Near Miss ◽  
Maternal Near Miss ◽  
Control Group ◽  
Systemic Lupus ◽  
Increased Risk ◽  
Life Threatening

Abstract Introduction: Systemic lupus erythematosus (SLE) may cause irreversible organ damage. Pregnancy with coexisting SLE may have severe life-threatening risks. Severe maternal morbidities (SMM) include maternal death, maternal near miss (MNM), and potentially life-threatening conditions (PLTC). This study aimed to determine the prevalence of SMM in patients with SLE and analyze the parameters that contributed to cases of greater severity. Methods: This is a cross-sectional retrospective study from analysis of data retrieved from medical records of pregnant women with SLE treated at São Paulo Hospital , Brazil, from 2005 to 2015. The pregnant women were divided in control group without complications, group with PLTC, and group with MNM. Results: Out of 149 pregnancies, there were 14 cases of MNM (9.4%), 56 cases of PLTC (37.6%), and no maternal death. The maternal near miss rate was 112.9 per 1,000 live births. The majority of PLTC (83.9%) and MNM (92.9%) cases had preterm deliveries with statistically significant increased risk compared with control group [p=0.0042; OR (95% CI): 12.05 (1.5-96.6) for MNM group and p=0.0001; OR (95% CI): 4.84 (2.2-10.8) for PLTC group]. SMM increases the risk of longer hospitalization [p<0,0001; OR (95% CI): 18.8 (7.0-50.6) and p <0.0001; OR (95% CI): 158.17 (17.6-1424,2) for PLTC and MNM, respectively], newborns with low birth weight [p=0.0006; OR (95% CI): 3.67 (1.7-7.9) and p=0.0009; OR (95% CI): 17.68 (2-153.6) for PLTC and MNM group, respectively] as well as renal diseases [PLTC (58.9%, 33/56; p = 0.0069) and MNM (78.6%, 11/14; p = 0.0026)]. MNM cases presented increased risk for neonatal death [p=0.0128; OR (95% CI): 38.4 (3.3-440.3)], stillbirth and miscarriage [p=0.0011; OR (95% CI): 7.68 (2.2-26.3)]. Conclusion: SLE was significantly associated with severe maternal morbidity, longer hospitalizations, and increased risk of poor obstetric and neonatal outcomes, such as prematurity, neonatal death, miscarriage and fetal loss.

Differential HLA class I and class II associations in pemphigus foliaceus and pemphigus vulgaris patients from a prevalent Southeastern Brazilian region

2016 ◽  
Vol 72 ◽  
pp. 19-24 ◽  
Author(s):  
Maria José Franco Brochado ◽  
Daniela Francisca Nascimento ◽  
Wagner Campos ◽  
Neifi Hassan Saloum Deghaide ◽  
Eduardo Antonio Donadi ◽  
...  
Keyword(s):  
Hla Class I ◽  
Pemphigus Vulgaris ◽  
Class Ii ◽  
Class I ◽  
Pemphigus Foliaceus

HLA Class II Allelic Variation and Susceptibility to Pemphigus Vulgaris

1989 ◽  
pp. 429-432
Author(s):  
Stephen J. Scharf ◽  
Adam Friedmann ◽  
Chaim Brautbar ◽  
Fanny Szafer ◽  
Lawrence Steinman ◽  
...  
Keyword(s):  
Allelic Variation ◽  
Pemphigus Vulgaris ◽  
Class Ii ◽  
Hla Class Ii

HLA Class II Allele Analyses Implicate Common Genetic Components in Type 1 and Non–Insulin-Treated Type 2 Diabetes

2020 ◽  
Vol 105 (3) ◽  
pp. e245-e254 ◽  
Author(s):  
Thomas Jacobi ◽  
Lucas Massier ◽  
Nora Klöting ◽  
Katrin Horn ◽  
Alexander Schuch ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Class Ii ◽  
Hla Class Ii ◽  
Risk Haplotype ◽  
Genetic Components ◽  
Hla Genotypes ◽  
Increased Risk

Abstract Context Common genetic susceptibility may underlie the frequently observed co-occurrence of type 1 and type 2 diabetes in families. Given the role of HLA class II genes in the pathophysiology of type 1 diabetes, the aim of the present study was to test the association of high density imputed human leukocyte antigen (HLA) genotypes with type 2 diabetes. Objectives and Design Three cohorts (Ntotal = 10 413) from Leipzig, Germany were included in this study: LIFE-Adult (N = 4649), LIFE-Heart (N = 4815) and the Sorbs (N = 949) cohort. Detailed metabolic phenotyping and genome-wide single nucleotide polymorphism (SNP) data were available for all subjects. Using 1000 Genome imputation data, HLA genotypes were imputed on 4-digit level and association tests for type 2 diabetes, and related metabolic traits were conducted. Results In a meta-analysis including all 3 cohorts, the absence of HLA-DRB5 was associated with increased risk of type 2 diabetes (P = 0.001). In contrast, HLA-DQB*06:02 and HLA-DQA*01:02 had a protective effect on type 2 diabetes (P = 0.005 and 0.003, respectively). Both alleles are part of the well-established type 1 diabetes protective haplotype DRB1*15:01~DQA1*01:02~DQB1*06:02, which was also associated with reduced risk of type 2 diabetes (OR 0.84; P = 0.005). On the contrary, the DRB1*07:01~DQA1*02:01~DQB1*03:03 was identified as a risk haplotype in non–insulin-treated diabetes (OR 1.37; P = 0.002). Conclusions Genetic variation in the HLA class II locus exerts risk and protective effects on non–insulin-treated type 2 diabetes. Our data suggest that the genetic architecture of type 1 diabetes and type 2 diabetes might share common components on the HLA class II locus.

scholarly journals An increased risk of Crohn's disease in individuals who inherit the HLA class II DRB3*0301 allele.

1996 ◽  
Vol 93 (10) ◽  
pp. 5094-5098 ◽  
Author(s):  
D. G. Forcione ◽  
B. Sands ◽  
K. J. Isselbacher ◽  
A. Rustgi ◽  
D. K. Podolsky ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Class Ii ◽  
Hla Class Ii ◽  
Increased Risk
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