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Archivum Immunologiae et Therapiae Experimentalis

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https://www.readbyqxmd.com/read/28083621/mutation-c-256_257delaa-in-rag1-gene-in-polish-children-with-severe-combined-immunodeficiency-diversity-of-clinical-manifestations
#1
Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, Anna Gruca, Agnieszka Grabowska, Marzena Lenart, Marta Surman, Elżbieta Trzyna, Anna Mordel, Anna Pituch-Noworolska, Maciej Siedlar
Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies associated or not with Omenn syndrome (OS) features. In our patients two different types of variants in RAG1 gene were detected. The first of the mutation was the deletion of AA dinucleotide at position c.256_257 (p...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083620/apportioning-blame-autoreactive-cd4-and-cd8-t-cells-in-type-1-diabetes
#2
REVIEW
Rubén Varela-Calvino, Cristina Calviño-Sampedro, Iria Gómez-Touriño, Oscar J Cordero
Type 1 diabetes (T1D) is one of the most studied archetypal organ-specific autoimmune diseases. Although many clinical, epidemiological, and pathological characteristics have been described, there are still important issues which need to be resolved as these will have a major impact on the development of future antigen-specific immunotherapies. An important question relates to T lymphocytes in the development of the disease, in particular their role in the destruction of insulin-producing beta cells. Since the discovery that certain class II histocompatibility complex molecules (HLA) are linked to the development of T1D, much research has focused on CD4(+) helper T lymphocytes; however, recent studies highlight class I HLA molecules as an independent risk factor; hence, research into the role played by CD8(+) cytotoxic T lymphocytes has gained momentum...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083619/determination-of-hla-a-b-and-drb1-allele-and-haplotype-frequencies-in-the-croatian-population-based-on-a-family-study
#3
Zorana Grubic, Marija Maskalan, Danijela Svilicic, Katarina Stingl Jankovic, Renata Zunec
In the present study, HLA allele and haplotype frequencies among Croatian families were investigated to evaluate valuable information about HLA genotypes and to compare them with data from the Croatian Bone Marrow Donor Registry (CBMDR). A total of 350 families which have been typed for the purpose of HSCT were included. All individuals were tested using PCR-SSO or PCR-SSP methods for HLA-A, -B, and -DRB1 alleles. The HLA-A-B-DRB1 haplotypes were determined by segregation and directly counted. A total of 30 HLA-A, 54 HLA-B, and 38 HLA-DRB1 alleles and 716 different HLA-A-B-DRB1 haplotypes were identified...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083618/cereblon-and-irf4-variants-affect-risk-and-response-to-treatment-in-multiple-myeloma
#4
Aleksandra Butrym, Piotr Łacina, Justyna Rybka, Monika Chaszczewska-Markowska, Grzegorz Mazur, Katarzyna Bogunia-Kubik
Multiple myeloma (MM) is a plasma-cell malignancy derived from an early precursor of the B-cell lineage characterised by bone-marrow infiltration, lytic bone lesions, and the presence of a monoclonal protein in serum and/or urine. Interferon regulatory factor 4 (IRF4) is a critical transcriptional regulator in B-cell development and function that is required during immune response for lymphocyte activation and the generation of immunoglobulin-secreting plasma cells. Immunomodulatory drugs, derivatives of thalidomide, are commonly used in therapy against MM...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083617/profile-of-inflammation-associated-proteins-in-early-post-transplant-samples-of-patients-after-allogeneic-hematopoietic-stem-cell-transplantation-a-preliminary-study
#5
Frantisek Mrazek, Petra Schneiderova, Eva Kriegova, Ludek Raida, Adam Kuba, Petr Gajdos, Nikola Königova, Jana Onderkova, Zuzana Ambruzova
Allogeneic hematopoietic stem cell transplantation (aHSCT) is used as a curative treatment in severe hematological and immunological disorders. Despite clear improvement of the aHSCT outcome, substantial proportion of patients still suffers from severe complications, including graft-versus-host disease (GvHD). The aim of this study was, therefore, to identify inflammation-associated molecules deregulated in the early serum samples of the patients after aHSCT and nominate markers associated with particular aHSCT parameters/complications...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083616/erap1-and-erap2-gene-variations-influence-the-risk-of-psoriatic-arthritis-in-romanian-population
#6
Olivia M Popa, Marius Cherciu, Laura I Cherciu, Monica I Dutescu, Mihai Bojinca, Violeta Bojinca, Constantin Bara, Luis O Popa
Psoriatic arthritis (PsA) is a chronic inflammatory disorder that belongs to the group of spondyloarthritis (SpA). It was found that single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes influence the risk of ankylosing spondylitis, the most common form of SpA and the risk of psoriasis. Our purpose was to investigate the possible association of ERAP1 and ERAP2 gene SNPs with psoriatic arthritis susceptibility in Romanian population. Subsequent analyses included patients' subgroups according to HLA-B27 status...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083615/functional-polymorphism-in-the-interleukin-6-il6-gene-with-respect-to-depression-induced-in-the-course-of-interferon-%C3%AE-and-ribavirin-treatment-in-chronic-hepatitis-patients
#7
Dorota Frydecka, Tomasz Pawłowski, Dariusz Pawlak, Krzysztof Małyszczak
Interleukin (IL)-6 is a multifactorial cytokine known to be increased in patients with chronic hepatitis C (CHC) and to be predictive of depression incidence. The aim of the study was to explore the association between IL6 gene C-174G polymorphism and depressive symptom severity in the longitudinal study design following the course of pegylated interferon/ribavirin treatment in CHC patients. In our study, we included 62 CHC subjects. They were assessed using present state examination, Beck Depression Inventory (BDI) and Montgomery Åsberg Depression Rating Scale (MADRS) at weeks 0, 3, 5, 9, 13, 24 and 24 weeks after the end of treatment...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083614/significance-of-polymorphism-and-expression-of-mir-146a-and-nfkb1-genetic-variants-in-patients-with-rheumatoid-arthritis
#8
Katarzyna Bogunia-Kubik, Barbara Wysoczańska, Dagmara Piątek, Milena Iwaszko, Marzena Ciechomska, Jerzy Świerkot
MicroRNA-146a (miR-146a) has been shown to play an important role in the regulation of inflammatory innate immune responses, and found to be differentially expressed in rheumatoid arthritis (RA). Through NF-κB pathway, this molecule is able to stimulate the release of pro-inflammatory cytokines such as TNF-α, IL-1β, and IL-17. It has been also suggested that single-nucleotide polymorphisms (SNPs) in miRNA sequences may alter miRNA expression and that miR-146a rs2910164 SNP may contribute to RA development...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083613/single-nucleotide-polymorphisms-of-the-erap1-gene-and-risk-of-nsclc-a-comparison-of-genetically-distant-populations-chinese-and-caucasian
#9
Yufeng Yao, Andrzej Wiśniewski, Qiangli Ma, Aneta Kowal, Irena Porębska, Konrad Pawełczyk, Jiankun Yu, Joanna Dubis, Natalia Żuk, Yingfu Li, Li Shi, Piotr Kuśnierczyk
An effective cytotoxic immune response to neoplastic cells requires efficient presentation of antigenic peptides to T lymphocytes by HLA class I (HLA-I) molecules. The HLA-I-bound peptide repertoire depends on antigen-processing machinery molecules. Aminopeptidase residing in endoplasmic reticulum 1 (ERAP1) trims peptides to the optimal length for HLA-I binding. Single nucleotide polymorphisms (SNPs) in the ERAP1 gene result in changes in aminopeptidase activity and specificity. This may affect susceptibility to cancer...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083612/transplantology-challenges-for-today
#10
REVIEW
Maria Boratyńska, Dariusz Patrzałek
Clinical transplantology in Poland had its 50th anniversary this year. With the early and long results comparable to the best achieved in the world leading centers, we face old and completely new challenges for this medical speciality. Main and growing challenge is insufficient number of available organs. With less than 15 donors/mln population/year Poland stay in the lower row of European countries in this measurement of transplant activity. Donation system is not efficient enough and we lose a big number of potential donors still...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083611/distribution-of-hla-dqb1-in-czech-patients-with-central-hypersomnias
#11
Milena Vrana, Vera Siffnerova, Pavla Pecherkova, Eva Ratajova, Karel Sonka
The aim of our study was to analyze the distribution of HLA-DQB1 in Czech patients with central hypersomnias and differences between diagnostic groups of narcolepsy type 1 (NT1), type 2 (NT2), idiopathic hypersomnia (IH) and no central hypersomnia subjects (no-CH). Statistical analysis of DQB1 genotyping was performed on the cohort of 716 patients (375 men, 341 women) with reported excessive daytime sleepiness. DQB1*06:02 allele was present in 94% of the NT1 patients. The decrease of DQB1*06:03 allele was also confirmed...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083610/characterization-of-three-cyp2c19-gene-variants-by-massarray-and-point-of-care-techniques-experience-from-a-czech-centre
#12
Martin Petrek, Lenka Kocourkova, Veronika Zizkova, Zdenek Nosek, Milos Taborsky, Jana Petrkova
Distribution of cytochrome P450 2C19 enzyme gene (CYP2C19) variants affecting metabolism of clopidogrel was determined in 526 Czech patients after percutaneous coronary intervention using MassARRAY genotyping and compared to distribution in other populations of European descent. Fifty-three (10%) patients underwent parallel determination of CYP2C19 genotypes from buccal swabs by a point of care technique with 100% concordance to the main genotyping platform. Observed CYP2C19 genotypes were related to clopidogrel metabolism phenotypes and discussed in population context...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083609/an-association-between-functional-polymorphisms-of-the-interleukin-1-gene-complex-and-schizophrenia-using-transmission-disequilibrium-test
#13
Pawel Kapelski, Maria Skibinska, Malgorzata Maciukiewicz, Joanna Pawlak, Monika Dmitrzak-Weglarz, Aleksandra Szczepankiewicz, Dorota Zaremba, Joanna Twarowska-Hauser
IL1 gene complex has been implicated in the etiology of schizophrenia. To assess whether IL1 gene complex is associated with susceptibility to schizophrenia in Polish population we conducted family-based study. Functional polymorphisms from IL1A (rs1800587, rs17561, rs11677416), IL1B (rs1143634, rs1143643, rs16944, rs4848306, rs1143623, rs1143633, rs1143627) and IL1RN (rs419598, rs315952, rs9005, rs4251961) genes were genotyped in 143 trio with schizophrenia. Statistical analysis was performed using transmission disequilibrium test...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083608/soluble-baff-cytokine-levels-and-antibody-mediated-rejection-of-the-kidney-allograft
#14
Antonij Slavcev, Jitka Brozova, Janka Slatinska, Zuzana Sekerkova, Eva Honsova, Jelena Skibova, Ilja Striz, Ondrej Viklicky
The B-cell activating factor (BAFF) cytokine has important functions for the survival and maturation of B lymphocytes, which implies that this cytokine might play a role in the development of antibody-mediated rejection (AMR) after kidney transplantation. In our study, we compared the concentrations of the soluble BAFF cytokine in kidney graft recipients with AMR and patients without rejection with the goal of testing the hypothesis whether BAFF level measurement might be useful as a diagnostic marker of AMR...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083607/the-expression-of-toll-like-receptors-in-patients-with-b-cell-chronic-lymphocytic-leukemia
#15
Justyna Rybka, Aleksandra Butrym, Tomasz Wróbel, Bożena Jaźwiec, Aleksandra Bogucka-Fedorczuk, Rafał Poręba, Kazimierz Kuliczkowski
B-cell chronic lymphocytic leukemia (B-CLL) presents with progressive accumulation of monoclonal B cells in the peripheral blood, bone marrow and lymphoid organs. B-CLL is characterized by heterogeneous clinical outcome. The expression of Toll-like receptors (TLRs) and their association with other prognostic factors in B-CLL patients remain unclear. The aim of our study was to evaluate the expression of TLR2, TLR4 and TLR9 genes and their significance as biological markers in patients with B-CLL. Sixty patients with newly diagnosed B-CLL were evaluated...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083606/the-influence-of-hla-and-kir-genes-on-malignant-melanoma-development-and-progression
#16
Snezhina Mihailova Kandilarova, Annette Paschen, Anastassia Mihaylova, Milena Ivanova, Dirk Schadendorf, Elissaveta Naumova
Many studies have described the role of killer immunoglobulin-like receptors (KIRs) and their cognate human leukocyte antigen (HLA) class I ligands in the immune protection against melanoma, but the effect of these markers on intra-individual variations in tumor development and progression has remained less clear. We performed KIR, HLA, and KIR/ligand analysis in 283 patients with malignant melanoma in order to evaluate their integrated influence on disease stage and progression. The patients were grouped according to AJCC staging, histological type of the primary tumor, progression, and survival rate...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083605/genetic-factors-of-diabetes
#17
REVIEW
Karolina Antosik, Maciej Borowiec
Monogenic diabetes is a rare genetic type of diabetes caused by pancreatic β-cells dysfunction. All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permanent neonatal diabetes mellitus and rare syndromic forms of diabetes. An early and proper diagnosis allows to implement an optimal treatment, leads to improved metabolic control and amelioration of related disabilities as well as increases the quality of life of the patients.
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083604/the-frequency-of-ccr5del32-mutation-in-populations-of-russians-tatars-and-bashkirs-of-chelyabinsk-region-russia
#18
Irina Govorovskaya, Elena Khromova, Tatiana Suslova, Leonid Alexeev, Ilya Kofiadi
The distribution of genetic variants associated with natural resistance to viral infections can vary among human ethnic groups due to evolutionary factors, defining the different epidemiologic background of world populations. The polymorphisms, defining the natural resistance to HIV-infection and the rate of progression up to AIDS, are very important since epidemic is still on rise. We have studied the distribution of allele and genotype frequencies of CCR5delta32 mutation in major populations inhabiting Chelyabinsk region of the Russian Federation...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28083603/genetic-structure-of-the-armenian-population
#19
REVIEW
Levon Yepiskoposyan, Anahit Hovhannisyan, Zaruhi Khachatryan
Located at the crossroads of Europe and the Middle East, the Armenian Highland served as a transition corridor for major waves of prehistoric and historic migrations. The genetic history of Armenians as an indigenous population of the region attracts keen scientific interest to resolve the puzzle of ancient Middle Eastern populations' expansion and the spread of Indo-European languages. Here, we review the current state of studies on the genetic structure of both modern and ancient inhabitants of the Armenian Highland and outline further steps to be fulfilled in this regard...
January 12, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/27933342/prediction-of-nk-cell-licensing-level-in-selection-of-hematopoietic-stem-cell-donor-initial-results
#20
Marta Rogatko-Koroś, Renata Mika-Witkowska, Katarzyna Bogunia-Kubik, Barbara Wysoczańska, Emilia Jaskuła, Katarzyna Kościńska, Klaudia Nestorowicz, Joanna Dziopa, Urszula Szlendak, Sławomir Gwozdowicz, Elżbieta Graczyk-Pol, Andrzej Lange, Jacek Nowak
Natural killer (NK) cell licensing status depends on clonal expression of inhibitory killer cell immunoglobulin-like receptors (iKIR) and short term HLA environment. Licensed NK cells are more efficient in tumor killing than unlicensed NK cells. Cognate KIR-HLA pairs in hematopoietic stem cell transplant (HSCT) donor and recipient are decisive for the possible change in the NK cell licensing status after HSCT. We assessed clinical outcomes in 297 patients with lymphoproliferative or myeloproliferative malignancies, or myelodysplastic syndrome in a model with upward licensing, downward resetting, and unchanged licensing genetics status after T cell replate HSCT from unrelated donors...
December 8, 2016: Archivum Immunologiae et Therapiae Experimentalis
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