Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4–CD8–B220–TCRαβ+ T cells (αβDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor. EBV-associated B cell malignancies occurred frequently in EBV-infected patients. We studied patients with XMEN and patients with autoimmune lymphoproliferative syndrome (ALPS) by deep immunophenotyping (32 immune markers) using time-of-flight mass cytometry (CyTOF). Our analysis revealed that the abundance of 2 populations of naive B cells (CD20+CD27–CD22+IgM+HLA-DR+CXCR5+CXCR4++CD10+CD38+ and CD20+CD27–CD22+IgM+HLA-DR+CXCR5+CXCR4+CD10–CD38–) could differentially classify XMEN, ALPS, and healthy individuals. We also performed glycoproteomics analysis on T lymphocytes and show that XMEN disease is a congenital disorder of glycosylation that affects a restricted subset of glycoproteins. Transfection of MAGT1 mRNA enabled us to rescue proteins with defective glycosylation. Together, these data provide new clinical and pathophysiologi...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research

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CONCLUSION: We report a case of chronic enterovirus infection associating meningitis and myofasciitis in an adult with rituximab-induced hypogammaglobulinemia. Outcome was favorable under treatment with intravenous immunoglobulins. PMID: 31980187 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Publication date: 25 March 2020Source: Journal of Industrial and Engineering Chemistry, Volume 83Author(s): Shengwen Tang, Changrong Wei, Rongjin Cai, Jiasheng Huang, E. Chen, Junhui YuanAbstractThis work systematically presented the pore structure evolution of different magnesium oxysulfate (MOS) cement pastes by non-contact impedance measurement (NCIM), fractal theory and other microstructural experiments. According to the evolution of electrical impedance response, three hydration stages (dissolution, acceleration and hardened stages) can be identified in the pastes. Furthermore, based on the results obtained from NCIM ...
Source: Journal of Industrial and Engineering Chemistry - Category: Chemistry Source Type: research
Publication date: Available online 25 January 2020Source: Clinics and Research in Hepatology and GastroenterologyAuthor(s): Wen-Yi Liu, Jian-Hong Wang, Yuan Guo, Xin Wang, Xiao-Dong Wu, Chuan-Shen Xu, Yang Zhao, Yun-Jin ZangSummaryBackgroundAn objective and accurate evaluation of liver grafts is required to improve the prognosis of liver transplant recipients and to increase the number of available liver grafts.AimTo compare outcomes using FibroScan with that of pathology in liver grafts from brain-dead donors (DBD).MethodsLiver grafts from 52 DBD were examined using ultrasound (US), FibroScan before liver transplantation ...
Source: Clinics and Research in Hepatology and Gastroenterology - Category: Gastroenterology Source Type: research
This study aims to explore the relationship between miR-195 and CD40 and its effect on Th17/Treg balance in rats with non-alcoholic fatty liver disease (NAFLD).MethodsWe established rat models of NAFLD and made seven groups, Normal group (without modeling), Model group (model rats), NC group (model rats injected with negative control vector), miR-195 OE group (model rats injected with miR-195 mimic), anti-miR-195 group (model rats injected with miR-195 inhibitor), Si-CD40 group (model rats injected with CD40 silencing vector), and anti-miR-195+Si-CD40 group (model rats injected with miR-195 inhibitor and CD40 silencing vec...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
Conclusion: EBRT can yield favorable local control in HCC with IVC and/or RA involvement. Systemic treatment may be more indicated as factors reflecting tumor aggressiveness were significant, and first distant failure is common. PMID: 31977276 [PubMed - as supplied by publisher]
Source: International Journal of Radiation Biology - Category: Radiology Tags: Int J Radiat Biol Source Type: research
Protein kinase C promotes choline transporter‑like protein 1 function via improved cell surface expression in immortalized human hepatic cells. Mol Med Rep. 2020 Feb;21(2):777-785 Authors: Ishikawa T, Suwanai H, Shikuma J, Suzuki R, Yamanaka T, Odawara M, Inazu M Abstract Choline is used to synthesize phospholipids and a lack of choline induces a number of liver‑related diseases, including non‑alcoholic steatohepatitis. The current study characterized the choline uptake system, at molecular and functional levels, in the immortalized human hepatic cell line, Fa2N‑4, to identify the spe...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Identification of hub genes and key pathways of dietary advanced glycation end products‑induced non‑alcoholic fatty liver disease by bioinformatics analysis and animal experiments. Mol Med Rep. 2020 Feb;21(2):685-694 Authors: Wang J, Liu H, Xie G, Cai W, Xu J Abstract Non‑alcoholic fatty liver disease (NAFLD) is a common chronic liver disease. Advanced glycation end products (AGEs) negatively affect the liver and accelerate NAFLD progression; however, the underlying mechanisms remain unclear. The present study aimed to examine the effect and mechanism of dietary AGEs on the mouse liver using bioi...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Publication date: 1 May 2020Source: Chemical Engineering Journal, Volume 387Author(s): Jiaqin Deng, Xiaodong Li, Xue Wei, Yunguo Liu, Jie Liang, Biao Song, Yanan Shao, Wei HuangAbstractA novel cost-effective hydrochar composite (MgSi-HC) prepared by a simple one-step process using waste sawdust, inexpensive silicate and magnesium salts as raw materials was used to remove Cu(II), Zn(II), and tetracycline (TC) from aqueous solution. The novel hydrochar material was characterized by SEM, TEM, XRD, BET specific surface area, ATR-FTIR spectra, and X-ray photoelectron spectroscopy. The values of surface area (107.7 m2/g) an...
Source: Chemical Engineering Journal - Category: Chemistry Source Type: research
Authors: Yuksekkaya R, Celikyay F, Gul SS, Yuksekkaya M, Kutluturk F, Ozmen C Abstract BACKGROUND: Graves' Disease is an autoimmune disorder characterized by increased levels of thyroid hormones correlated with increased thyroid blood flow. Thyroid scintigraphy is an important and conventional method. However, it has limited accessibility, has ionizing radiation, and is expensive. OBJECTIVES: To investigate the thyroid blood flow in patients with Graves' Disease by color Doppler Ultrasonography and a newly developed software Color Quantification. METHODS: Forty-one consecutive subjects with GD and 41 health...
Source: Current Medical Imaging Reviews - Category: Radiology Tags: Curr Med Imaging Rev Source Type: research
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Source: Gut Microbes - Category: Microbiology Authors: Source Type: research
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