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immunodeficiency and calcium

Huiping Shi, Zhaoyue Wang
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown...
February 2018: Medicine (Baltimore)
W J M Janssen, V Grobarova, J Leleux, C H Jongeneel, M van Gijn, J M van Montfrans, M Boes
BACKGROUND: PSTPIP1 is a cytosolic adaptor protein involved with T-cell activation, differentiation, and migration. Upon cognate T-cell contact, PSTPIP1 is recruited to surface-expressed CD2, where it regulates f-actin remodeling. An immune synapse (IS) is thereby rapidly formed, consisting of TCR clusters surrounded by a ring of adhesion molecules including CD2. OBJECTIVE: From genetic screening of primary immunodeficiency patients, we identified two mutations in PSTPIP1, R228C and T274M which we further characterized in primary patient T-cells...
February 9, 2018: Journal of Allergy and Clinical Immunology
Sara Westrøm, Tina B Bønsdorff, Øyvind S Bruland, Roy H Larsen
BACKGROUND: Ovarian cancer patients with chemotherapy-resistant residual microscopic disease in the peritoneal cavity have a considerable need for new treatment options. Alpha-emitting radionuclides injected intraperitoneally may be an attractive therapeutic option in this situation as they are highly cytotoxic, while their short range in tissues can spare surrounding radiosensitive organs in the abdomen. Herein we evaluate the therapeutic efficacy of a novel α-emitting compound specifically designed for intracavitary radiation therapy...
January 27, 2018: Translational Oncology
Sara Westrøm, Marion Malenge, Ida Sofie Jorstad, Elisa Napoli, Øyvind S Bruland, Tina B Bønsdorff, Roy H Larsen
Internal therapy with α-emitters should be well suited for micrometastatic disease. Radium-224 emits multiple α-particles through its decay and has a convenient 3.6 days half-life. Despite its attractive properties, the use of 224 Ra has been limited to bone-seeking applications because it cannot be stably bound to a targeting molecule. Alternative delivery systems for 224 Ra are therefore of considerable interest. In this study, calcium carbonate (CaCO3 ) microparticles are proposed as carriers for 224 Ra, designed for local therapy of disseminated cancers in cavitary regions, such as peritoneal carcinomatosis...
January 29, 2018: Journal of Labelled Compounds & Radiopharmaceuticals
Yannong Dou, Jingsheng Xia, Ruby Gao, Xinghua Gao, Frances M Munoz, Dongyu Wei, Yuzhen Tian, James E Barrett, Seena Ajit, Olimpia Meucci, James W Putney, Yue Dai, Huijuan Hu
Pathological pain is a common and debilitating condition that is often poorly managed. Central sensitization is an important mechanism underlying pathological pain. However, candidate molecules involved in central sensitization remain unclear. Store-operated calcium channels (SOCs) mediate important calcium signals in nonexcitable and excitable cells. SOCs have been implicated in a wide variety of human pathophysiological conditions, including immunodeficiency, occlusive vascular diseases, and cancer. However, the role of SOCs in CNS disorders has been relatively unexplored...
January 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Emelie Englund, Giacomo Canesin, Konstantinos S Papadakos, Neelanjan Vishnu, Emma Persson, Bart Reitsma, Aseem Anand, Laila Jacobsson, Leszek Helczynski, Hindrik Mulder, Anders Bjartell, Anna M Blom
Cartilage oligomeric matrix protein (COMP) was recently implicated in the progression of breast cancer. Immunostaining of 342 prostate cancer specimens in tissue microarrays showed that COMP expression is not breast cancer-specific but also occurs in prostate cancer. The expression of COMP in prostate cancer cells correlated with a more aggressive disease with faster recurrence. Subcutaneous xenografts in immunodeficient mice showed that the prostate cancer cell line DU145 overexpressing COMP formed larger tumors in vivo as compared to mock-transfected cells...
November 17, 2017: Oncotarget
Irene Frischauf, Monika Litviňuková, Romana Schober, Vasilina Zayats, Barbora Svobodová, Daniel Bonhenry, Victoria Lunz, Sabrina Cappello, Laura Tociu, David Reha, Amrutha Stallinger, Anna Hochreiter, Teresa Pammer, Carmen Butorac, Martin Muik, Klaus Groschner, Ivan Bogeski, Rüdiger H Ettrich, Christoph Romanin, Rainer Schindl
The channel Orai1 requires Ca2+ store depletion in the endoplasmic reticulum and an interaction with the Ca2+ sensor STIM1 to mediate Ca2+ signaling. Alterations in Orai1-mediated Ca2+ influx have been linked to several pathological conditions including immunodeficiency, tubular myopathy, and cancer. We screened large-scale cancer genomics data sets for dysfunctional Orai1 mutants. Five of the identified Orai1 mutations resulted in constitutively active gating and transcriptional activation. Our analysis showed that certain Orai1 mutations were clustered in the transmembrane 2 helix surrounding the pore, which is a trigger site for Orai1 channel gating...
November 28, 2017: Science Signaling
Hatice Demet Kiper Unal, Melda Comert Ozkan, Fatos Dilan Atilla, Zuhal Demirci, Nur Soyer, Ilgin Yildirim Simsir, Ozgur Omur, Kazim Capaci, Guray Saydam, Fahri Sahin
Haemophilia has been associated with low bone mineral density (BMD) probably due to some predisposing factors. The aim of this study was to evaluate the relationship between BMD and potential clinical predictors in adult haemophilic patients. Fortynine patients with moderate and severe haemophilia were enrolled. BMD was measured by Dual Energy X-Ray Absorptiometry (DXA) and blood tests were performed for vitamin D, calcium, phosphore, alkaline phosphatase and parathormone levels. Functional Independence Score in Haemophilia (FISH) and Haemophilia Joint Health Score (HJHS) were used to assess musculoskeletal functions...
2017: American Journal of Blood Research
Moses M Ngari, Johnstone Thitiri, Laura Mwalekwa, Molline Timbwa, Per Ole Iversen, Greg W Fegan, James A Berkley
The effects of rickets on children recovery from severe acute malnutrition (SAM) are unknown. Rickets may affect both growth and susceptibility to infectious diseases. We investigated the associations of clinically diagnosed rickets with life-threatening events and anthropometric recovery during 1 year following inpatient treatment for complicated SAM. This was a secondary analysis of clinical trial data among non-human immunodeficiency virus-infected Kenyan children with complicated SAM (2-59 months) followed for 1 year posthospital discharge (ClinicalTrials...
November 27, 2017: Maternal & Child Nutrition
Alfonso Vallejo, Angela A Garcia-Ruano, Carmen Pinilla, Michele Castellano, Esther Deleyto, Rosa Perez-Cano
BACKGROUND: The objective was to evaluate and compare safety and effectiveness of four different dermal fillers in the treatment of facial lipoatrophy secondary to Human Immunodeficiency Virus (HIV). METHODS: We conducted a clinical trial including 147 patients suffering from HIV-induced lipoatrophy treated with Sculptra® (poly-L-lactic acid), Radiesse® (calcium hydroxylapatite), Aquamid® (polyacrylamide) or autologous fat. Objective and subjective changes were evaluated during a 24-monthfollow-up...
November 8, 2017: Plastic and Reconstructive Surgery
Rohan Ameratunga, Wikke Koopmans, See-Tarn Woon, Euphemia Leung, Klaus Lehnert, Charlotte A Slade, Jessica C Tempany, Anselm Enders, Richard Steele, Peter Browett, Philip D Hodgkin, Vanessa L Bryant
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies where monogenetic causes account for only a fraction of cases. On this evidence, CVID is potentially polygenic and epistatic although there are, as yet, no examples to support this hypothesis. We have identified a non-consanguineous family, who carry the C104R (c.310T>C) mutation of the Transmembrane Activator Calcium-modulator and cyclophilin ligand Interactor (TACI, TNFRSF13B) gene. Variants in TNFRSF13B/TACI are identified in up to 10% of CVID patients, and are associated with, but not solely causative of CVID...
October 2017: Clinical & Translational Immunology
Aamir N Ahmad, Shahid N Ahmad, Nafees Ahmad
More than 36 million people are living with human immunodeficiency virus (HIV) infection worldwide and 50% of them have access to antiretroviral therapy (ART). While recent advances in HIV therapy have reduced the viral load, restored CD4 T cell counts and decreased opportunistic infections, several bone-related abnormalities such as low bone mineral density (BMD), osteoporosis, osteopenia, osteomalacia and fractures have emerged in HIV-infected individuals. Of all classes of antiretroviral agents, HIV protease inhibitors used in ART combination showed a higher frequency of osteopenia, osteoporosis and low BMD in HIV-infected patients...
2017: Open Orthopaedics Journal
Wenjuan Ru, Shao-Jun Tang
Human immunodeficiency virus (HIV) infection induces neuronal injuries, with almost 50% of infected individuals developing HIV-associated neurocognitive disorders (HAND). Although highly activate antiretroviral therapy (HAART) has significantly reduced the incidence of severe dementia, the overall prevalence of HAND remains high. Synaptic degeneration is emerging as one of the most relevant neuropathologies associate with HAND. Previous studies have reported critical roles of viral proteins and inflammatory responses in this pathogenesis...
August 29, 2017: Molecular Brain
Desirée Schubert, Marie-Christine Klein, Sarah Hassdenteufel, Andrés Caballero-Oteyza, Linlin Yang, Michele Proietti, Alla Bulashevska, Janine Kemming, Johannes Kühn, Sandra Winzer, Stephan Rusch, Manfred Fliegauf, Alejandro A Schäffer, Stefan Pfeffer, Roger Geiger, Adolfo Cavalié, Hongzhi Cao, Fang Yang, Yong Li, Marta Rizzi, Hermann Eibel, Robin Kobbe, Amy L Marks, Brian P Peppers, Robert W Hostoffer, Jennifer M Puck, Richard Zimmermann, Bodo Grimbacher
BACKGROUND: Primary antibody deficiencies (PADs) are the most frequent primary immunodeficiencies in human subjects. The genetic causes of PADs are largely unknown. Sec61 translocon alpha 1 subunit (SEC61A1) is the major subunit of the Sec61 complex, which is the main polypeptide-conducting channel in the endoplasmic reticulum membrane. SEC61A1 is a target gene of spliced X-box binding protein 1 and strongly induced during plasma cell (PC) differentiation. OBJECTIVE: We identified a novel genetic defect and studied its pathologic mechanism in 11 patients from 2 unrelated families with PADs...
August 4, 2017: Journal of Allergy and Clinical Immunology
Raymond H de Wit, Raimond Heukers, Hendrik J Brink, Angela Arsova, David Maussang, Pasquale Cutolo, Beatrijs Strubbe, Henry F Vischer, Françoise Bachelerie, Martine J Smit
WHIM syndrome is a rare congenital immunodeficiency disease, named after its main clinical manifestations: warts, hypogammaglobulinemia, infections, and myelokathexis, which refers to abnormal accumulation of mature neutrophils in the bone marrow. The disease is primarily caused by C-terminal truncation mutations of the chemokine receptor CXCR4, giving these CXCR4-WHIM mutants a gain of function in response to their ligand CXCL12. Considering the broad functions of CXCR4 in maintaining leukocyte homeostasis, patients are panleukopenic and display altered immune responses, likely as a consequence of impairment in the differentiation and trafficking of leukocytes...
October 2017: Journal of Pharmacology and Experimental Therapeutics
Silvina Mastaglia, Dana Watson, Natalia Bello, Vanesa Fridman, Daniel Stecher, Beatriz Oliveri
Vitamin D has immunomodulating properties. The nuclear receptor for vitamin D is expressed in several immune cells, which convert 25-hydroxyvitamin D (25OHD) to the active form 1,25 hydroxyvitamin D [1,25(OH)2 D]. Under conditions of infection, 1,25(OH)2 D promotes production of cathelicidin (an antimicrobial peptide) in monocytes and activated macrophages. In vitro studies have shown the ability of cathelicidin to inhibit replication of human immunodeficiency virus (HIV-1) in T CD4 lymphocytes and macrophages...
January 2017: Clinical Cases in Mineral and Bone Metabolism
Changqing Xu, Douglas J Hermes, Blessing Nwanguma, Ian R Jacobs, Kenneth Mackie, Somnath Mukhopadhyay, Aron H Lichtman, Bogna Ignatowska-Jankowska, Sylvia Fitting
In the era of combined antiretroviral therapy (cART), human immunodeficiency virus type 1 (HIV-1) is considered a chronic disease that specifically targets the brain and causes HIV-1-associated neurocognitive disorders (HAND). Endocannabinoids (eCBs) elicit neuroprotective and anti-inflammatory actions in several central nervous system (CNS) disease models, but their effects in HAND remain unknown. HIV-1 does not infect neurons, but produces viral toxins, such as transactivator of transcription (Tat), that disrupt neuronal calcium equilibrium and give rise to synaptodendritic injuries and cell death, the former being highly correlated with HAND...
September 2017: Molecular and Cellular Neurosciences
Hanne Falk, Patrick F Forde, Marie Lund Bay, Uma Maheswari Mangalanathan, Pernille Hojman, Declan M Soden, Julie Gehl
Electroporation is used in cancer treatment because of its ability to increase local cytotoxicity of e.g. bleomycin (electrochemotherapy) and calcium (calcium electroporation). Calcium electroporation is a novel anticancer treatment that selectively kills cancer cells by necrosis, a cell death pathway that stimulates the immune system due to high release of antigens and "danger signals." In this exploratory study, we aimed to investigate whether calcium electroporation could initiate an anticancer immune response similar to electrochemotherapy...
2017: Oncoimmunology
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
Susanna Zierler, Sarah Hampe, Wiebke Nadolni
The immune system protects our body against foreign pathogens. However, if it overshoots or turns against itself, pro-inflammatory diseases, such as rheumatoid arthritis, inflammatory bowel disease, or diabetes develop. Ions, the most basic signaling molecules, shape intracellular signaling cascades resulting in immune cell activation and subsequent immune responses. Mutations in ion channels required for calcium signaling result in human immunodeficiencies and highlight those ion channels as valued targets for therapies against pro-inflammatory diseases...
November 2017: Cell Calcium
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