Hassan Abolhassani, Gholamreza Azizi, Laleh Sharifi, Reza Yazdani, Monireh Mohsenzadegan, Samaneh Delavari, Mahsa Sohani, Paniz Shirmast, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Arash Kalantari, Marzieh Tavakol, Farahzad Jabbari-Azad, Hamid Ahanchian, Tooba Momen, Roya Sherkat, Mahnaz Sadeghi-Shabestari, Soheila Aleyasin, Hossein Esmaeilzadeh, Waleed Al-Herz, Ahmed Aziz Bousfiha, Antonio Condino-Neto, Mikko Seppänen, Kathleen E Sullivan, Lennart Hammarström, Vicki Modell, Fred Modell, Jessica Quinn, Jordan S Orange, Asghar Aghamohammadi
INTRODUCTION: During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear...
July 28, 2020: Expert Review of Clinical Immunology
Sarah A Cook, William A Comrie, M Cecilia Poli, Morgan Similuk, Andrew J Oler, Aiman J Faruqi, Douglas B Kuhns, Sheng Yang, Alexander Vargas-Hernández, Alexandre F Carisey, Benjamin Fournier, D Eric Anderson, Susan Price, Margery Smelkinson, Wadih Abou Chahla, Lisa R Forbes, Emily M Mace, Tram N Cao, Zeynep H Coban-Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Jordan S Orange, Geoffrey D E Cuvelier, Moza Al Hassani, Nawal Al Kaabi, Zain Al Yafei, Soma Jyonouchi, Nikita Raje, Jason W Caldwell, Yanping Huang, Janis K Burkhardt, Sylvain Latour, Baoyu Chen, Gehad ElGhazali, V Koneti Rao, Ivan K Chinn, Michael J Lenardo
Immunodeficiency often coincides with hyperactive immune disorders such as autoimmunity, lymphoproliferation, or atopy, but this coincidence is rarely understood on a molecular level. We describe five patients from four families with immunodeficiency coupled with atopy, lymphoproliferation, and cytokine overproduction harboring mutations in NCKAP1L , which encodes the hematopoietic-specific HEM1 protein. These mutations cause the loss of the HEM1 protein and the WAVE regulatory complex (WRC) or disrupt binding to the WRC regulator, Arf1, thereby impairing actin polymerization, synapse formation, and immune cell migration...
July 10, 2020: Science
Issa Abu-Dayyeh, Jumana Abu-Kwaik, Alf Weimann, Amid Abdelnour
BACKGROUND: Despite the recognition of food allergies as a significant cause of morbidity and a growing public health burden worldwide, there are no epidemiological studies addressing food sensitization and allergy in Jordan. OBJECTIVE: To conduct an epidemiological study that retrospectively analyzes sensitization data from 3463 patients with suspected immunoglobulin E (IgE)-mediated food allergic reactions who performed specific IgE tests in our laboratories in Jordan...
June 15, 2020: Immunity, Inflammation and Disease
Philip Zachariah, Candace L Johnson, Katia C Halabi, Danielle Ahn, Anita I Sen, Avital Fischer, Sumeet L Banker, Mirna Giordano, Christina S Manice, Rebekah Diamond, Taylor B Sewell, Adam J Schweickert, John R Babineau, R Colin Carter, Daniel B Fenster, Jordan S Orange, Teresa A McCann, Steven G Kernie, Lisa Saiman
Importance: Descriptions of the coronavirus disease 2019 (COVID-19) experience in pediatrics will help inform clinical practices and infection prevention and control for pediatric facilities. Objective: To describe the epidemiology, clinical, and laboratory features of patients with COVID-19 hospitalized at a children's hospital and to compare these parameters between patients hospitalized with and without severe disease. Design, Setting, and Participants: This retrospective review of electronic medical records from a tertiary care academically affiliated children's hospital in New York City, New York, included hospitalized children and adolescents (≤21 years) who were tested based on suspicion for COVID-19 between March 1 to April 15, 2020, and had positive results for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)...
June 3, 2020: JAMA Pediatrics
Marcel Kuhny, Lisa R Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K Dinesh, Salomé Glauzy, Asbjorg Stray-Pedersen, Ashley E Pezzi, I Celine Hanson, Alexander Vargas-Hernandez, Mina LuQuing Xu, Zeynep H Coban Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Ivan K Chinn, David G Schatz, Jordan S Orange, Eric Meffre
Patients with common variable immunodeficiency associated with autoimmune cytopenias (CVID+AIC) generate few isotype-switched B cells with severely decreased frequencies of somatic hypermutations (SHM) but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC patient who displays a rare homozygous missense M466V mutation in the beta catenin-like protein 1 (CTNNBL1). Since CTNNBL1 binds activation-induced cytidine deaminase (AID) that catalyzes SHM, we tested AID interactions with the CTNNBL1 M466V variant...
June 2, 2020: Journal of Clinical Investigation
Jessica Quinn, Vicki Modell, Jennifer Holle, Rebecca Truty, Swaroop Aradhya, Britt Johnson, Jordan Orange, Fred Modell
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic and often life-threatening infections and/or life-threatening autoimmunity if not diagnosed and treated. Patients with a suspected PI, but without a genetic diagnosis, commonly undergo a diagnostic odyssey that is costly, time-consuming, and arduous. This delay in diagnosis prevents appropriate disease management and treatment, contributing to prolonged suffering and decreased quality of life. Although next generation sequencing (NGS) can provide these patients with relief from such a diagnostic odyssey, it is often unavailable, mainly due to cost and inaccessibility...
May 27, 2020: Immunologic Research
Helen C Su, Jordan S Orange
Several recent studies provide valuable new information that expands the spectrum of human disease associated with mutations in CDC42.
May 16, 2020: Journal of Clinical Immunology
May A Beydoun, Hind A Beydoun, Jordan Weiss, Sharmin Hossain, Ziad W El-Hajj, Alan B Zonderman
Co-infection between Helicobacter pylori (Hp) and groups of periodontal pathogens may alter the onset of Alzheimer's disease (AD) and all-cause dementia. We examined the interactive associations among Hp sero-positivity, periodontal disease (Pd), and infections with incident AD and all-cause dementia, among older adults (≥65 years at baseline). Up to 1431 participants from phase 1 of the National Health and Nutrition Survey III (1988-1991) had complete data till January 1st, 2014 on Hp sero-positivity with a mean follow-up of 10-11 years for AD and all-cause dementia incidence...
May 4, 2020: Molecular Psychiatry
Audrea M Burns, Kate Ackerman, Satid Thammasitboon, Caroline Rassbach, Mark A Ward, Rebecca Blankenburg, Catherine S Forster, Heather McPhillips, Tara Wenger, Weston Powell, Melvin B Heyman, Michael Hogarty, Debra Boyer, Margaret Hostetter, Pnina Weiss, Suong Nguyen, Donald Williams Parsons, Daniel J Moore, Bobbi Byrne, Anthony French, Jordan S Orange
No abstract text is available yet for this article.
March 16, 2020: Pediatric Research
Jessica Quinn, Jordan S Orange, Vicki Modell, Fred Modell
Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing severe deficiency in T cell and B cell function. These conditions are life-threatening and result in susceptibility to serious infections. SCID is often fatal in the first year of life if not detected and properly treated. SCID and related T cell lymphopenias can be detected in newborns by a simple screening test, the T cell receptor excision circle (TREC) assay, using the same dried blood spot samples already collected from newborns to screen for other genetic disorders...
February 2020: Immunologic Research
Arpad Dobolyi, Attila Bago, Miklos Palkovits, Natalia S Nemeria, Frank Jordan, Judit Doczi, Attila Ambrus, Vera Adam-Vizi, Christos Chinopoulos
The ketoglutarate dehydrogenase complex (KGDHC) consists of three different subunits encoded by OGDH (or OGDHL), DLST, and DLD, combined in different stoichiometries. DLD subunit is shared between KGDHC and pyruvate dehydrogenase complex, branched-chain alpha-keto acid dehydrogenase complex, and the glycine cleavage system. Despite KGDHC's implication in neurodegenerative diseases, cell-specific localization of its subunits in the adult human brain has never been investigated. Here, we show that immunoreactivity of all known isoforms of OGDHL, OGDH, and DLST was detected exclusively in neurons of surgical human cortical tissue samples identified by their morphology and visualized by double labeling with fluorescent Nissl, while being absent from glia expressing GFAP, Aldhl1, myelin basic protein, Olig2, or IBA1...
January 25, 2020: Brain Structure & Function
Nicholaus J Trenton, R Tyler McLaughlin, Satya K Bellamkonda, David S Tsao, Alexandra Rodzinski, Emily M Mace, Jordan S Orange, Volker Schweikhard, Michael R Diehl
The coordination of lipid messenger signaling with cytoskeletal regulation is central to many organelle-specific regulatory processes. This coupling often depends on the function of multidomain scaffolds that orchestrate transient interactions among multiple signaling intermediates and regulatory proteins on organelles. The number of possible scaffold interaction partners and the ability for these interactions to occur at different timescales makes investigations of scaffold functions challenging. This work employs live cell imaging to probe how the multidomain scaffold IQ motif containing GTPase activating protein 1 (IQGAP1) coordinates the activities of proteins affecting local actin polymerization, membrane processing, and phosphoinositide signaling...
December 31, 2019: Biophysical Journal
Samuel T Orange, James W Metcalfe, Andreas Liefeith, Alastair R Jordan
BACKGROUND: Movement velocity and power in a single STS are related to functional performance in older adults. Identifying accessible tools that provide valid measures of STS velocity/power would allow practitioners to evaluate physical function in clinical settings where time, space and finances are limited. RESEARCH QUESTION: Does a linear position transducer (LPT), iPhone application (App), and inertial measurement unit (IMU) obtain valid measurements of velocity and power during a single STS compared with 3D motion capture? METHODS: Twenty-seven community-dwelling older adults aged ≥60 years completed a single STS test with mean velocity and power simultaneously measured with 3D motion capture, an LPT, IMU and App...
December 12, 2019: Gait & Posture
Michael Tuan Lam, Emily M Mace, Jordan S Orange
Natural Killer Cell Deficiencies (NKDs) are an emerging phenotypic subtype of primary immune deficiency. NK cells provide a defense against virally infected cells using a variety of cytotoxic mechanisms, and patients who have defective NK cell development or function can present with atypical, recurrent or severe herpesviral infections. The current pipeline for investigating NKDs involves the acquisition and clinical assessment of patients with a suspected NKD followed by subsequent in silico, in vitro and in vivo laboratory research...
January 15, 2020: Blood
Joud Hajjar, An L Nguyen, Gregory Constantine, Carleigh Kutac, Maha N Syed, Jordan S Orange, Kathleen E Sullivan
PURPOSE: Prophylactic antibiotics (PA) and immunoglobulin replacement (IGRT) are commonly used in specific antibody deficiency (SAD); however, optimal treatment is not well-established. Our purpose is to compare treatment outcomes with IGRT and/or PA among SAD patients. METHODS: A retrospective chart review of SAD patients treated at two tertiary centers between January 2012 and May 2017 was performed. Clinical and laboratory data, and rates of infections prior to and after treatment with IGRT or PA were analyzed...
November 22, 2019: Journal of Clinical Immunology
Jordan S Orange
Natural killer (NK) cell deficiency (NKD) is a subset of primary immunodeficiency disorders (PID) in which an abnormality of NK cells represents a major immunological defect resulting in the patient's clinical immunodeficiency. This is distinct from a much larger group of PIDs that include an NK cell abnormality as a minor component of the immunodeficiency. Patients with NKD most frequently have atypical consequences of herpesviral infections. There are now 6 genes that have been ascribed to causing NKD, some exclusively and others that also cause other known immunodeficiencies...
November 22, 2019: Journal of Clinical Immunology
Juan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, Juan Zou, Matthew Biancalana, Sally J Deeb, Susan Price, Helen C Su, Giulia Notarangelo, Ping Jiang, Aaron Morawski, Chrysi Kanellopoulou, Kyle Binder, Ratnadeep Mukherjee, James T Anibal, Brian Sellers, Lixin Zheng, Tingyan He, Alex B George, Stefania Pittaluga, Astin Powers, David E Kleiner, Devika Kapuria, Marc Ghany, Sally Hunsberger, Jeffrey I Cohen, Gulbu Uzel, Jenna Bergerson, Lynne Wolfe, Camilo Toro, William Gahl, Les R Folio, Helen Matthews, Pam Angelus, Ivan K Chinn, Jordan S Orange, Claudia M Trujillo-Vargas, Jose Luis Franco, Julio Orrego-Arango, Sebastian Gutiérrez-Hincapié, Niraj Chandrakant Patel, Kimiyo Raymond, Turkan Patiroglu, Ekrem Unal, Musa Karakukcu, Alexandre Gr Day, Pankaj Mehta, Evan Masutani, Suk S De Ravin, Harry L Malech, Grégoire Altan-Bonnet, V Koneti Rao, Matthias Mann, Michael J Lenardo
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are 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...
January 2, 2020: Journal of Clinical Investigation
George Makedonas, Satish Mehta, Alexander Choukèr, Richard J Simpson, Gailen Marshall, Jordan S Orange, Serena Aunon-Chancellor, Scott M Smith, Sara R Zwart, Raymond P Stowe, Martina Heer, Sergey Ponomarev, Alexandra Whitmire, Jean P Frippiat, Grace L Douglas, Stephanie S Krieger, Hernan Lorenzi, Judith-Irina Buchheim, Geoffrey S Ginsburg, C Mark Ott, Meghan Downs, Duane Pierson, Natalie Baecker, Clarence Sams, Brian Crucian
No abstract text is available yet for this article.
2019: Frontiers in Immunology
Michael T Lam, Simona Coppola, Oliver H F Krumbach, Giusi Prencipe, Antonella Insalaco, Cristina Cifaldi, Immacolata Brigida, Erika Zara, Serena Scala, Silvia Di Cesare, Simone Martinelli, Martina Di Rocco, Antonia Pascarella, Marcello Niceta, Francesca Pantaleoni, Andrea Ciolfi, Petra Netter, Alexandre F Carisey, Michael Diehl, Mohammad Akbarzadeh, Francesca Conti, Pietro Merli, Anna Pastore, Stefano Levi Mortera, Serena Camerini, Luciapia Farina, Marcel Buchholzer, Luca Pannone, Tram N Cao, Zeynep H Coban-Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Luca Basso-Ricci, Maria Chiriaco, Radovan Dvorsky, Lorenza Putignani, Rita Carsetti, Petra Janning, Asbjorg Stray-Pedersen, Hans Christian Erichsen, AnnaCarin Horne, Yenan T Bryceson, Lamberto Torralba-Raga, Kim Ramme, Vittorio Rosti, Claudia Bracaglia, Virginia Messia, Paolo Palma, Andrea Finocchi, Franco Locatelli, Ivan K Chinn, James R Lupski, Emily M Mace, Caterina Cancrini, Alessandro Aiuti, Mohammad R Ahmadian, Jordan S Orange, Fabrizio De Benedetti, Marco Tartaglia
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH...
December 2, 2019: Journal of Experimental Medicine
Alexander Vargas-Hernández, Agnieszka Witalisz-Siepracka, Michaela Prchal-Murphy, Klara Klein, Sanjana Mahapatra, Waleed Al-Herz, Emily M Mace, Alexandre F Carisey, Jordan S Orange, Veronika Sexl, Lisa R Forbes
BACKGROUND: Patients with STAT5b deficiency have autoimmunity, recurrent infections and combined immune deficiency, which affects T-cell homeostasis and leads to natural killer (NK) cell impairment. OBJECTIVE: In this study, we characterized the NK cell defect in STAT5b-deficient human NK cells as well as Stat5b-/- mice. METHODS: We used multiparametric flow cytometry, functional NK cells assays, microscopy as well as a Stat5b-/- mouse model to elucidate the effect impaired and/or absent STAT5b has on NK cell development and function...
October 7, 2019: Journal of Allergy and Clinical Immunology
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