Search Results - "Salzer, U."
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MicroRNA-146a reduces MHC-II expression via targeting JAK/STAT signaling in dendritic cells after stem cell transplantation
Published in Leukemia (01-12-2017)“…Acute Graft-versus-host disease (GVHD) is a major immunological complication after allogeneic hematopoietic cell transplantation and a better understanding of…”
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X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis
Published in Clinical immunology (Orlando, Fla.) (01-10-2013)“…Abstract X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative…”
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Activating PI3K[delta] mutations in a cohort of 669 patients with primary immunodeficiency
Published in Clinical and experimental immunology (01-02-2016)“…Summary The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3-kinase [delta] (PI3K[delta]), and is expressed solely in leucocytes. Activating…”
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Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency
Published in Clinical and experimental immunology (01-02-2016)“…Summary The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3‐kinase δ (PI3Kδ), and is expressed solely in leucocytes. Activating mutations of…”
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Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
Published in Nature genetics (01-08-2005)“…The functional interaction of BAFF and APRIL with TNF receptor superfamily members BAFFR, TACI and BCMA is crucial for development and maintenance of humoral…”
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Stomatin, flotillin-1, and flotillin-2 are major integral proteins of erythrocyte lipid rafts
Published in Blood (15-02-2001)“…Lipid rafts are sphingolipid- and cholesterol-rich membrane microdomains that are insoluble in nonionic detergents, have a low buoyant density, and…”
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Low ficolin‐2 levels in common variable immunodeficiency patients with bronchiectasis
Published in Clinical and experimental immunology (01-02-2015)“…Summary Common variable immunodeficiency (CVID) encompasses a heterogeneous group of antibody deficiencies characterized by susceptibility to recurrent…”
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Chilblain lupus and steroid‐responsive pancytopenia precede monosomy 7‐linked AML as manifestation of rasopathy
Published in Pediatric blood & cancer (01-12-2017)Get full text
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Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations
Published in Human immunology (01-11-2012)“…Abstract Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodeficiency (CVID) and selective IgA deficient (IgAD)…”
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Incidence of thrombotic and bleeding complications during cardiac catheterization in children: comparison of high‐dose vs. low‐dose heparin protocols
Published in Journal of thrombosis and haemostasis (01-12-2011)“…Background: During cardiac catheterization (CC) in children, unfractionated heparin (UFH) is used for primary prophylaxis of thrombotic events (TE). However,…”
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Active vaccination in patients with common variable immunodeficiency (CVID)
Published in Clinical Immunology (01-09-2007)“…Abstract Active vaccination of CVID patients with standard vaccines has rarely been studied in depth although some patients have been shown to develop…”
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Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency
Published in Clinical immunology (Orlando, Fla.) (01-12-2010)“…Abstract Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway. Raised CD3+TCRαβ+CD4−CD8− double negative T cells and…”
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A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family
Published in Human immunology (01-08-2012)“…Abstract Common variable immunodeficiency (CVID) is a primary immune disorder characterized by low immunoglobulin serum levels and increased susceptibility to…”
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Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency
Published in Clinical and experimental immunology (01-09-2008)“…Mannose-binding lectin (MBL), activating protein of the lectin pathway of the complement system, is an important component of the non-specific immune response…”
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P-018 Exome-sequencing identifies acquired mutations in ASXL1, PHF6 and DOCK5 as secondary genetic events in a case of germline GATA2-mutation
Published in Leukemia research (01-05-2013)Get full text
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Danon disease: Case report and detection of new mutation
Published in Journal of inherited metabolic disease (01-12-2009)“…Summary Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 ( LAMP2 ) gene. We report a male patient…”
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Gap Junction Communication and Connexin 43 Gene Expression in a Rat Granulosa Cell Line: Regulation by Follicle-Stimulating Hormone
Published in Biology of reproduction (01-12-2000)“…Follicle-stimulating hormone is the major regulator of growth and development of antral follicles in the ovary. Granulosa cells (GCs) in these follicles are…”
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Early failure of the tissue engineered porcine heart valve SYNERGRAFT® in pediatric patients
Published in European journal of cardio-thoracic surgery (01-06-2003)“…Objectives: The first tissue engineered decellularized porcine heart valve, Synergraft® (Cryolife Inc., USA) was introduced in Europe as an alternative to…”
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Early-onset inflammatory bowel disease caused by mutant IL10 receptor
Published in Journal of translational medicine (25-11-2010)“…From: 5th European Workshop on Immune-Mediated Inflammatory Diseases Sitges-Barcelona, Spain 1-3 December 2010 Author details 1-Dept. of Immunology, Royal Free…”
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