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Job Verdonschot, Mark Hazebroek, Jort Merken, Yannick Debing, Robert Dennert, Hans-Peter Brunner-La Rocca, Stephane Heymans
Over the last decade, parvovirus B19 (B19V) has frequently been linked to the pathogenesis of myocarditis (MC) and its progression towards dilated cardiomyopathy (DCM). The exact role of the presence of B19V and its load remains controversial, as this virus is also found in the heart of healthy subjects. Moreover, the prognostic relevance of B19V prevalence in endomyocardial biopsies still remains unclear. As a result, it is unclear whether the presence of B19V should be treated. This review provides an overview of recent literature investigating the presence of B19V and its pathophysiological relevance in MC and DCM, as well as in normal hearts...
October 17, 2016: European Journal of Heart Failure
Claudia Reynoso-von Drateln, Noemí Gómez-Hernández, Norma Rodríguez-Martínez, Carlos Torres-Lozano
An 81-year-old male and a 47-year-old female experienced recurrent severe bullous dermatosis secondary to an intake of drugs and alternative medicines indicated for arthralgias. The first patient had previously presented with Stevens-Johnson/toxic epidermal necrolysis (TEN) overlap syndrome in 2007 secondary to ingestion of trimethoprim/sulfamethoxazole indicated for a urinary tract infection; 6 years later, he presented with the same syndrome 2 days after ingestion of oral naproxen tablets 250 mg twice daily...
December 2016: Drug Saf Case Rep
Vojtech Bystry, Tomas Reigl, Adam Krejci, Martin Demko, Barbora Hanakova, Andrea Grioni, Henrik Knecht, Max Schlitt, Peter Dreger, Leopold Sellner, Dietrich Herrmann, Marine Pingeon, Myriam Boudjoghra, Jos Rijntjes, Christiane Pott, Anton W Langerak, Patricia J T A Groenen, Frederic Davi, Monika Brüggemann, Nikos Darzentas
MOTIVATION: The study of immunoglobulins and T cell receptors using next-generation sequencing has finally allowed exploring immune repertoires and responses in their immense variability and complexity. Unsurprisingly, their analysis and interpretation is a highly convoluted task. RESULTS: We thus implemented ARResT/Interrogate, a web-based, interactive application. It can organize and filter large amounts of immunogenetic data by numerous criteria, calculate several relevant statistics, and present results in the form of multiple interconnected visualizations...
October 13, 2016: Bioinformatics
Hisham A Edinur, Siti M Manaf, Nor F Che Mat
The successful of transplantation is determined by the shared human leukocyte antigens (HLAs) and ABO blood group antigens between donor and recipient. In recent years, killer cell receptor [i.e., killer cell immunoglobulin-like receptor (KIR)] and major histocompatibility complex (MHC) class I chain-related gene molecule (i.e., MICA) were also reported as important determinants of transplant compatibility. At present, several different genotyping techniques (e.g., sequence specific primer and sequence based typing) can be used to characterize blood group, HLA, MICA and KIR and loci...
September 24, 2016: World Journal of Transplantation
Peter M Clark, Jamie L Duke, Deborah Ferriola, Valia Bravo-Egana, Tunde Vago, Aniqa Hassan, Anna Papazoglou, Dimitri Monos
BACKGROUND: Routine, high-resolution human leukocyte antigen (HLA) genotyping by next generation sequencing within clinical immunogenetics laboratories can now provide the full-length gene sequence characterization of fully phased HLA alleles. This powerful technique provides insights into HLA variation beyond the traditionally characterized antigen recognition domain, providing sequence annotation across the entire gene including untranslated and intronic regions and may be used to characterize novel alleles from massively parallel sequencing runs...
September 27, 2016: Clinical Chemistry
J Street, E Davies, T Climer, C Darke
Immunogenetic information is provided on five novel alleles with synonymous mutations.
November 2016: HLA
Sefayet Karaca, Ersoy Civelek, Mehmet Karaca, Umit M Sahiner, Riza K Ozgul, Can N Kocabas, Renato Polimanti, Bülent E Sekerel
To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma and Allergies in Children) Phase II tools. We investigated 9 loci involved in different immune functions (ADAM33, ADRB2, CD14, IL13, IL4, IL4R, MS4A2, SERPINE1, and TNF) with respect to 116 traits assessed through blood tests, hypertonic saline challenge tests, questionnaires, and skin prick tests...
2016: Scientific Reports
Douglas A Grow, John R McCarrey, Christopher S Navara
The derivation of dopaminergic neurons from induced pluripotent stem cells brings new hope for a patient-specific, stem cell-based replacement therapy to treat Parkinson's disease (PD) and related neurodegenerative diseases; and this novel cell-based approach has already proven effective in animal models. However, there are several aspects of this procedure that have yet to be optimized to the extent required for translation to an optimal cell-based transplantation protocol in humans. These challenges include pinpointing the optimal graft location, appropriately scaling up the graft volume, and minimizing the risk of chronic immune rejection, among others...
August 26, 2016: Stem Cell Research
N S Bardeskar, J Mania-Pramanik
Host genetic factors play a major role in determining the outcome of many infections including human immunodeficiency virus (HIV). Multiple host factors have been studied till date showing their varied role in susceptibility or resistance to HIV infection. HLA-C, however, has been recently started gaining interest in researchers mind revealing its polymorphisms to have an important effect on viral load set-points, disease progression as well as transmission. In this review report, we have compiled these significant findings of HLA-C in HIV infection, in an attempt to highlight the need for further research in the area in different ethnic population to establish its role in the infection...
November 2016: HLA
Cynthia Hernandes Costa, Georgia Fernanda Gelmini, Fabiola Silva Nardi, Valéria Maria Munhoz Sperandio Roxo, Alessandro Schuffner, Maria da Graça Bicalho
HLA-G codes for a non-classical Class I (Ib) protein which is mainly expressed in trophoblast cells. Many pieces of evidence pointed out its essential role conferring immunological tolerance to the fetus. Some HLA-G alleles have been linked to enhanced or reduced HLA-G protein levels expression, which have been associated with reproductive failure. In this study 33 couples undergoing ART (assisted reproduction treatment; n = 66) and 120 couples who conceived naturally (controls; n = 240) were enrolled in the study...
September 8, 2016: Human Immunology
Agnieszka Wójtowicz, Pierre-Yves Bochud
Patients undergoing haematopoietic stem cell transplantation (HSCT) are highly exposed to infectious agents. However, it is not known why certain HSCT recipients rapidly develop severe infections while other, despite similar immunosuppressive conditions, do not. Increasing evidence suggests that such differences may be due, in part, to polymorphisms in immune genes. Thus, the identification of genetic factors influencing susceptibility to infections in HSCT recipients may lead to the development of individualized management strategies...
September 9, 2016: Virulence
Iago Pinal-Fernandez, Andrew L Mammen
PURPOSE OF REVIEW: This review aims to describe the spectrum of clinical, histological, and serological features in patients with immune-mediated necrotizing myopathies (IMNMs). RECENT FINDINGS: Autoantibodies recognizing the signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) define two unique subtypes of necrotizing myositis patient with distinct clinical features. For example, the major histocompatibility class II human leukocyte antigen allele DRB111:01 is a strong immunogenetic risk factor for developing anti-HMGCR autoantibodies whereas B5001 and DQA10104 are over-represented in patients with anti-SRP autoantibodies...
November 2016: Current Opinion in Rheumatology
P I Hablützel, A F Grégoir, M P M Vanhove, F A M Volckaert, J A M Raeymaekers
Geographical isolation, habitat variation and trophic specialisation have contributed to a large extent to the astonishing diversity of cichlid fishes in the Great East African lakes. Because parasite communities often vary across space and environments, parasites can accompany and potentially enhance cichlid species diversification. However, host dispersal may reduce opportunities for parasite-driven evolution by homogenizing parasite communities and allele frequencies of immunity genes. To test for the relationships between parasite community variation, host dispersal and parasite-induced host evolution, we studied two sympatric cichlid species with contrasting dispersal capacities along the shores of southern Lake Tanganyika...
September 6, 2016: Molecular Ecology
Bruna Lavinas Sayed Picciani, Tábata Alves Domingos, Thays Teixeira-Souza, Vanessa de Carla Batista Dos Santos, Heron Fernando de Sousa Gonzaga, Juliana Cardoso-Oliveira, Alexandre Carlos Gripp, Eliane Pedra Dias, Sueli Carneiro
Geographic tongue is a chronic, inflammatory, and immune-mediated oral lesion of unknown etiology. It is characterized by serpiginous white areas around the atrophic mucosa, which alternation between activity, remission and reactivation at various locations gave the names benign migratory glossitis and wandering rash of the tongue. Psoriasis is a chronic inflammatory disease with frequent cutaneous involvement and an immunogenetic basis of great importance in clinical practice. The association between geographic tongue and psoriasis has been demonstrated in various studies, based on observation of its fundamental lesions, microscopic similarity between the two conditions and the presence of a common genetic marker, human leukocyte antigen (HLA) HLA-C*06...
July 2016: Anais Brasileiros de Dermatologia
Bernardo Sousa-Pinto, Cláudia Correia, Lídia Gomes, Sara Gil-Mata, Luís Araújo, Osvaldo Correia, Luís Delgado
Delayed drug allergy reactions (DDAR) are potentially fatal. Certain human leukocyte antigen (HLA) alleles have been associated with delayed allergy reactions following the administration of particular drugs. Examples are HLA-B*57:01 (abacavir), HLA-B*15:02/HLA-A*31:01 (carbamazepine), and HLA-B*58:01 (allopurinol). Based on the identification of these associations, it may now be possible to prevent certain allergy reactions that were, until recently, considered unpredictable. In this review, we will focus on the pharmacogenetics of the best-studied associations between specific HLA alleles and delayed allergy reactions and describe the pathogenesis models proposed so far...
2016: International Archives of Allergy and Immunology
Cássia Rubia Bernardo, Ana Vitória Silveira Camargo, Luís Sérgio Ronchi, Amanda Priscila de Oliveira, Eumildo de Campos Júnior, Aldenis Albaneze Borim, Cinara Cássia Brandão de Mattos, Reinaldo Bulgarelli Bestetti, Luiz Carlos de Mattos
Chagas disease, caused by Trypanosoma cruzi, can affect the heart, esophagus and colon. The reasons that some patients develop different clinical forms or remain asymptomatic are unclear. It is believed that tissue immunogenetic markers influence the tropism of T. cruzi for different organs. ABO, Secretor and Lewis histo-blood group systems express a variety of tissue carbohydrate antigens that influence the susceptibility or resistance to diseases. This study aimed to examine the association of ABO, secretor and Lewis histo-blood systems with the clinical forms of Chagas disease...
August 24, 2016: Infection, Genetics and Evolution
Johannes R Hov, Kirsten M Boberg, Eli Taraldsrud, Mette Vesterhus, Maria Boyadzhieva, Inger Camilla Solberg, Erik Schrumpf, Morten H Vatn, Benedicte A Lie, Øyvind Molberg, Tom H Karlsen
BACKGROUND&AIMS: The strongest genetic risk factors in primary sclerosing cholangitis (PSC) are encoded in the HLA complex. Anti-neutrophil cytoplasmic antibodies (ANCA) have been reported in up to 94% of PSC patients, but their clinical significance and immunogenetic basis are ill-defined. We aimed to characterize clinical and genetic associations of ANCA in PSC. METHODS: ANCA were analyzed with indirect immunofluorescence in 241 Norwegian PSC patients. HLA-B and HLA-DRB1 genotyping was performed in the patients and in 368 healthy controls...
August 25, 2016: Liver International: Official Journal of the International Association for the Study of the Liver
Lineu Cesar Werneck, Paulo José Lorenzoni, Raquel Cristina Arndt, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola
OBJECTIVE: To study the HLA of class 1and 2 in a multiple sclerosis (MS) population to verify the susceptibility for the disease in the Southern Brazil. METHODS: We analyzed patients with MS and controls, by direct sequencing of the genes related to HLA DRB1, DQB1, DPB1, A, B and C alleles with high resolution techniques. RESULTS: We found a lower frequency of all HLA alleles class 1 and 2 in MS and controls comparing to the European population...
August 2016: Arquivos de Neuro-psiquiatria
Tarso Adoni
No abstract text is available yet for this article.
August 2016: Arquivos de Neuro-psiquiatria
A-M Little, A Green, J Harvey, S Hemmatpour, K Latham, S G E Marsh, K Poulton, D Sage
A review of the British Society for Histocompatibility and Immunogenetics (BSHI) "Guideline for selection and HLA matching of related, adult unrelated donors and umbilical cord units for haematopoietic progenitor cell transplantation" was undertaken by a BSHI appointed writing committee. Literature searches were performed, and the data extracted were presented as recommendations according to the GRADE nomenclature.
October 2016: International Journal of Immunogenetics
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