Common Variable Immunodeficiency with CD4+ T Lymphocytopenia And
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IDF Patient & Family Handbook
Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficiency Diseases This book contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this book should not be used as a substitute for professional medical advice. FIFTH EDITION COPYRIGHT 1987, 1993, 2001, 2007, 2013 IMMUNE DEFICIENCY FOUNDATION Copyright 2013 by Immune Deficiency Foundation, USA. REPRINT 2015 Readers may redistribute this article to other individuals for non-commercial use, provided that the text, html codes, and this notice remain intact and unaltered in any way. The Immune Deficiency Foundation Patient & Family Handbook may not be resold, reprinted or redistributed for compensation of any kind without prior written permission from the Immune Deficiency Foundation. If you have any questions about permission, please contact: Immune Deficiency Foundation, 110 West Road, Suite 300, Towson, MD 21204, USA; or by telephone at 800-296-4433. Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficency Diseases 5th Edition This publication has been made possible through a generous grant from Baxalta Incorporated Immune Deficiency Foundation 110 West Road, Suite 300 Towson, MD 21204 800-296-4433 www.primaryimmune.org [email protected] EDITORS R. Michael Blaese, MD, Executive Editor Francisco A. Bonilla, MD, PhD Immune Deficiency Foundation Boston Children’s Hospital Towson, MD Boston, MA E. Richard Stiehm, MD M. Elizabeth Younger, CPNP, PhD University of California Los Angeles Johns Hopkins Los Angeles, CA Baltimore, MD CONTRIBUTORS Mark Ballow, MD Joseph Bellanti, MD R. Michael Blaese, MD William Blouin, MSN, ARNP, CPNP State University of New York Georgetown University Hospital Immune Deficiency Foundation Miami Children’s Hospital Buffalo, NY Washington, DC Towson, MD Miami, FL Francisco A. -
Khan CV 9-4-20
CURRICULUM VITAE DAVID A. KHAN, MD University of Texas Southwestern Medical Center 5323 Harry Hines Boulevard Dallas, TX 75390-8859 (214) 648-5659 (work) (214) 648-9102 (fax) [email protected] EDUCATION 1980 -1984 University of Illinois, Champaign IL; B.S. in Chemistry, Magna Cum Laude 1984 -1988 University of Illinois School of Medicine, Chicago IL; M.D. 1988 -1991 Good Samaritan Medical Center, Phoenix AZ; Internal Medicine internship & residency 1991-1994 Mayo Clinic, Rochester MN; Allergy & Immunology fellowship PROFESSIONAL EXPERIENCE 1994 -2001 Assistant Professor of Internal Medicine, UT Southwestern 1997 -1998 Co-Director, Allergy & Immunology Training Program 1998 - Director, Allergy & Immunology Training Program 2002- 2008 Associate Professor of Internal Medicine, UT Southwestern 2008-present Professor of Medicine, UT Southwestern AWARDS/HONORS 1993 Allen & Hanburys Respiratory Institute Allergy Fellowship Award 1993 Von Pirquet Award 2001 Outstanding Teacher 2000-2001 UTSW Class of 2003 2004 Outstanding Teacher 2003-2004 UTSW Class of 2006 2005 Outstanding Teacher 2004-2005 UTSW Class of 2007 2006 Daniel Goodman Lectureship, ACAAI meeting 2007 Most Entertaining Teacher 2006-2007 UTSW Class of 2009 2008 Stanislaus Jaros Lectureship, ACAAI meeting 2009 Outstanding Teacher 2007-2008 UTSW Class of 2010 2011 John L. McGovern Lectureship, ACAAI meeting 2012 I. Leonard Bernstein Lecture, ACAAI meeting 2014 Distinguished Fellow, ACAAI meeting 2015 Elliot F. Ellis Memorial Lectureship, AAAAI meeting 2015 Bernard Berman Lectureship, -
Newborn Screening for Severe Combined Immunodeficiency And
Newborn screening for SCID and related forms of Primary Immunodeficiency Michael Keller, MD Division of Allergy and Immunology Aims To review the epidemiology and possible presentations of primary immunodeficiency disorders. To learn about the TREC newborn screening assay, and what to do with a positive result. Speaker Disclosures No disclosures to declare. Case: 10 month old girl Ex FT infant, poor weight and chronic diarrhea since 2 months of age. No prior known infections, negative FH. Initial workup CBC: CMP: Na: 135 WBC: 5.6 K: 3.9 Hb: 11.3 Cl: 104 Hct: 34.1 CO2: 24 MCV: 79.1 BUN: 4 Plt: 386 Cr: 0.2 ANC: 2055 Glu: 70 Total protein: 4.9 ALC: 3102 Albumin: 3.0 Eos: 0.2% Alk Phos: 126 Monos: 6.9% ALT: 84 AST: 87 Phos: 4.8 Mg: 2.3 GGT: 17 Differential . Primary GI disease . IBD, allergic enterocolitis, . GI channelopathy . Metabolic disorder or CF . Newborn screening catches many but not all . Chronic infection . HIV . Immune disorder Further testing • Stool testing: negative for norovirus, enterovirus, parechovirus, adenovirus, O&P, culture • Negative CMV, EBV PCRs (blood) • Normal fecal elastase (434) • Positive Rotavirus Antigen EIA Further testing Hypogammaglobulinemia No vaccine responses Further testing Lymphocyte Flow Cytometry Marker Value Normal range (cells/mcl) (cells/mcl) CD3+ (T-cells) 242 1600-6700 CD3/CD4+ 86 1000-4600 CD3/CD8+ 15 400-2100 CD4/CD45RA+ 61 500-1100 CD4/CD45RO+ 57 150-600 CD16/56+, CD3- (NK cells) 223 200-1200 CD19+ (B-cells) 1735 600-2700 Profound T-cell Lymphocytopenia Diagnosis Dx: Severe combined immunodeficiency Epidemiology: Primary immunodeficiency Over 200+ known congenital immunologic defects • In total, primary immunodeficiency is thought to occur as frequent as 1 in 5000. -
Advances in Dental Research
Advances in Dental Research http://adr.sagepub.com/ The Association Between Immunodeficiency and the Development of Autoimmune Disease J.W. Sleasman ADR 1996 10: 57 DOI: 10.1177/08959374960100011101 The online version of this article can be found at: http://adr.sagepub.com/content/10/1/57 Published by: http://www.sagepublications.com On behalf of: International and American Associations for Dental Research Additional services and information for Advances in Dental Research can be found at: Email Alerts: http://adr.sagepub.com/cgi/alerts Subscriptions: http://adr.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav Downloaded from adr.sagepub.com by guest on July 18, 2011 For personal use only. No other uses without permission. THE ASSOCIATION BETWEEN IMMUNODEFICIENCY AND THE DEVELOPMENT OF AUTOIMMUNE DISEASE J.W. SLEASMAN aradoxically, individuals with primary or acquired immunodeficiency disease have an increased Division of Pediatric Immunology and Allergy incidence of autoimmunity. Human primary University of Florida College of Medicine immunodeficiency disease can be classified as Box 100296, 1600 SW Archer Road P disorders of cell-mediated immunity, humoral immunity, Gainesville, Florida 32610-0296 phagocytic cell function, and the complement system (Barrett and Sleasman, 1990). Cell-mediated and humoral immunity Adv Dent Res 10(l):57-61, April, 1996 comprise the adaptive arm of the immune response, which is antigen-specific and confers immunologic memory. The innate immune response, which is antigen-nonspecific, is Abstract—There is a paradoxical relationship between composed of phagocytic cells and the inflammatory peptides. immunodeficiency diseases and autoimmunity. While not all Not all individuals with inherited immunodeficiency develop individuals with immunodeficiency develop autoimmunity, autoimmunity, nor are all individuals with autoimmune nor are all individuals with autoimmunity immunodeficient, disease immunodeficient. -
Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck. -
Current Perspectives on Primary Immunodeficiency Diseases
Clinical & Developmental Immunology, June–December 2006; 13(2–4): 223–259 Current perspectives on primary immunodeficiency diseases ARVIND KUMAR, SUZANNE S. TEUBER, & M. ERIC GERSHWIN Division of Rheumatology, Allergy and Clinical Immunology, Department of Internal Medicine, University of California at Davis School of Medicine, Davis, CA, USA Abstract Since the original description of X-linked agammaglobulinemia in 1952, the number of independent primary immunodeficiency diseases (PIDs) has expanded to more than 100 entities. By definition, a PID is a genetically determined disorder resulting in enhanced susceptibility to infectious disease. Despite the heritable nature of these diseases, some PIDs are clinically manifested only after prerequisite environmental exposures but they often have associated malignant, allergic, or autoimmune manifestations. PIDs must be distinguished from secondary or acquired immunodeficiencies, which are far more common. In this review, we will place these immunodeficiencies in the context of both clinical and laboratory presentations as well as highlight the known genetic basis. Keywords: Primary immunodeficiency disease, primary immunodeficiency, immunodeficiencies, autoimmune Introduction into a uniform nomenclature (Chapel et al. 2003). The International Union of Immunological Societies Acquired immunodeficiencies may be due to malnu- (IUIS) has subsequently convened an international trition, immunosuppressive or radiation therapies, infections (human immunodeficiency virus, severe committee of experts every two to three years to revise sepsis), malignancies, metabolic disease (diabetes this classification based on new PIDs and further mellitus, uremia, liver disease), loss of leukocytes or understanding of the molecular basis. A recent IUIS immunoglobulins (Igs) via the gastrointestinal tract, committee met in 2003 in Sintra, Portugal with its kidneys, or burned skin, collagen vascular disease such findings published in 2004 in the Journal of Allergy and as systemic lupus erythematosis, splenectomy, and Clinical Immunology (Chapel et al. -
Prevalence and Pathogenicity of Autoantibodies in Patients with Idiopathic CD4 Lymphopenia
Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia Ainhoa Perez-Diez, … , Richard Siegel, Irini Sereti J Clin Invest. 2020;130(10):5326-5337. https://doi.org/10.1172/JCI136254. Clinical Medicine Autoimmunity Immunology Graphical abstract Find the latest version: https://jci.me/136254/pdf CLINICAL MEDICINE The Journal of Clinical Investigation Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia Ainhoa Perez-Diez,1 Chun-Shu Wong,1 Xiangdong Liu,1 Harry Mystakelis,1 Jian Song,2 Yong Lu,2 Virginia Sheikh,1 Jeffrey S. Bourgeois,1 Andrea Lisco,1 Elizabeth Laidlaw,1 Cornelia Cudrici,3 Chengsong Zhu,4 Quan-Zhen Li,4,5 Alexandra F. Freeman,6 Peter R. Williamson,7 Megan Anderson,1 Gregg Roby,1 John S. Tsang,2,8 Richard Siegel,3 and Irini Sereti1 1HIV Pathogenesis Section, Laboratory of Immunoregulation, and 2Multiscale Systems Biology Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases (NIAID), and 3Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, USA. 4Microarray Core Facility and 5Department of Immunology and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 6Laboratory of Clinical and Molecular Immunology and 7Translational Mycology Section, Laboratory of Clinical and Molecular Immunology, NIAID, and 8Trans-NIH Center for Human Immunology, NIH, Bethesda, Maryland, USA. BACKGROUND. Idiopathic CD4 lymphopenia (ICL) is defined by persistently low CD4+ cell counts (<300 cells/μL) in the absence of a causal infection or immune deficiency and can manifest with opportunistic infections. Approximately 30% of ICL patients develop autoimmune disease. -
CDG and Immune Response: from Bedside to Bench and Back Authors
CDG and immune response: From bedside to bench and back 1,2,3 1,2,3,* 2,3 1,2 Authors: Carlota Pascoal , Rita Francisco , Tiago Ferro , Vanessa dos Reis Ferreira , Jaak Jaeken2,4, Paula A. Videira1,2,3 *The authors equally contributed to this work. 1 Portuguese Association for CDG, Lisboa, Portugal 2 CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN), Caparica, Portugal 3 UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2829-516 Caparica, Portugal 4 Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium Word count: 7478 Number of figures: 2 Number of tables: 3 This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/jimd.12126 This article is protected by copyright. All rights reserved. Abstract Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein-attached glycans that mediate cell-cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are Congenital Disorders of Glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterised by an increased propensity to – often life-threatening – infection. -
Patient & Family Handbook
Immune Deficiency Foundation Patient & Family Handbook For Primary Immunodeficiency Diseases This book contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this book should not be used as a substitute for professional medical advice. SIXTH EDITION COPYRIGHT 1987, 1993, 2001, 2007, 2013, 2019 IMMUNE DEFICIENCY FOUNDATION Copyright 2019 by Immune Deficiency Foundation, USA. Readers may redistribute this article to other individuals for non-commercial use, provided that the text, html codes, and this notice remain intact and unaltered in any way. The Immune Deficiency Foundation Patient & Family Handbook may not be resold, reprinted or redistributed for compensation of any kind without prior written permission from the Immune Deficiency Foundation. If you have any questions about permission, please contact: Immune Deficiency Foundation, 110 West Road, Suite 300, Towson, MD 21204, USA; or by telephone at 800-296-4433. Immune Deficiency Foundation Patient & Family Handbook For Primary Immunodeficiency Diseases 6th Edition The development of this publication was supported by Shire, now Takeda. 110 West Road, Suite 300 Towson, MD 21204 800.296.4433 www.primaryimmune.org [email protected] Editors Mark Ballow, MD Jennifer Heimall, MD Elena Perez, MD, PhD M. Elizabeth Younger, Executive Editor Children’s Hospital of Philadelphia Allergy Associates of the CRNP, PhD University of South Florida Palm Beaches Johns Hopkins University Jennifer Leiding, -
Idiopathic CD4 T Cell Lymphocytopenia: a Case of Overexpression of PD-1/PDL-1 and CTLA-4
Case Report Idiopathic CD4 T Cell Lymphocytopenia: A Case of Overexpression of PD-1/PDL-1 and CTLA-4 Gaurav Kumar 1,2,* , Heidy Schmid-Antomarchi 2 , Annie Schmid-Alliana 2 , Michel Ticchioni 2 and Pierre-Marie Roger 2,3,4,5 1 Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA 2 Unité 576, Institut National de la Santé et de la Recherche Médicale, Hôpital de l’Archet I, 151 Route de Saint-Antoine, 06200 Nice, France; [email protected] (H.S.-A.); [email protected] (A.S.-A.); [email protected] (M.T.); [email protected] (P.-M.R.) 3 Laboratoire d’Immunologie, Hôpital de l’Archet, Centre Hospitalier Universitaire de Nice, 151 Route de Saint-Antoine, 06200 Nice, France 4 Infectiologie, Centre Hospitalier Universitaire de la Guadeloupe, Pointe-à-Pitre/Abymes, Route de Chauvel, Les Abymes, 97139 Guadeloupe, France 5 Faculté de Médecine, Université des Antilles, 97157 Pointe-à-Pitre, France * Correspondence: [email protected]; Tel.: +1-405-271-2907 Abstract: Idiopathic CD4 T cell lymphocytopenia (ICL) is a rare entity characterized by CD4 T cell count of <300 cells/mm3 along with opportunistic infection for which T cell marker expression remains to be fully explored. We report an ICL case for which T lymphocyte phenotype and its costimulatory molecules expression was analyzed both ex vivo and after overnight stimulation through CD3/CD28. The ICL patient was compared to five healthy controls. We observed higher expression of inhibitory molecules PD-1/PDL-1 and CTLA-4 on CD4 T cells and increased regulatory Citation: Kumar, G.; T cells in ICL, along with high activation and low proliferation of CD4 T cells. -
Absolute Lymphocyte Count Is a Prognostic Marker in Covid-19: a Retrospective Cohort Review
Received: 12 May 2020 | Revised: 26 May 2020 | Accepted: 21 June 2020 DOI: 10.1111/ijlh.13288 ORIGINAL ARTICLE Absolute lymphocyte count is a prognostic marker in Covid-19: A retrospective cohort review Jason Wagner1 | Andrew DuPont2 | Scott Larson2 | Brooks Cash2 | Ahmad Farooq2,3 1Department of Internal Medicine, University of Texas Health Science Center at Abstract Houston, Houston, TX, USA Introduction: Prognostic factors are needed to aid clinicians in managing Covid-19, 2 Department of Internal Medicine, Division a respiratory illness. Lymphocytopenia has emerged as a simply obtained laboratory of Gastroenterology, Hepatology and Nutrition, University of Texas Health value that may correlate with prognosis. Science Center at Houston, Houston, TX, Methods: In this article, we perform a retrospective cohort review study on patients USA 3Department of Internal Medicine, Division admitted to one academic hospital for Covid-19 illness. We analyzed basic demo- of Gastroenterology and Hepatology, Duke graphic, clinical, and laboratory data to understand the relationship between lym- University, Durham, NC, USA phocytopenia at the time of hospital admission and clinical outcomes. Correspondence Results: We discovered that lymphocyte count is lower (P = .01) and lymphocytope- Ahmad Farooq, Department of Internal Medicine, Division of Gastroenterology, nia more frequent by an odds ratio of 3.40 (95% CI: 1.06-10.96; P = .04) in patients Hepatology and Nutrition, University of admitted to the Intensive Care Unit (ICU), a marker of disease severity, relative to Texas Health Science Center at Houston, 6431 Fannin, MSB 1.150. Houston, TX those who were not. We additionally find that patients with lymphocytopenia were 77030, USA. -
Assessment of the Humoral Immune System in Adults with Respiratory Tract Disease
Assessment of the humoral immune system in adults with respiratory tract disease Diana van Kessel Assesment of the humoral immune system in adults with respiratory tract disease D.A. van Kessel Thesis University Utrecht, the Netherlands ISBN: 978-94-90329-35-8 NUR: 870 Cover illustration: Henk ten Have, Zoelen, the Netherlands Cover design and lay-out: emjee | grafische vormgeving, Varik, the Netherlands Print: Veldhuis Media BV, Raalte, the Netherlands © 2017, D.A. van Kessel All rights are reserved. No part of this publication may be reproduced without written permission of the author. The copyright of articles that already have been published has been transferred to the respective journals. Assessment of the humoral immune system in adults with respiratory tract disease Evaluatie van het humorale afweersysteem bij volwassenen met een aandoening van de ademhalingswegen (met een samenvatting in het Nederlands) Proefschrift ter verdediging van de graad van doctor aan de Universiteit Utrecht op gezag van de rector magnificus, prof. dr. G.J. van der Zwaan, ingevolge het besluit van het college voor promoties in het openbaar te verdedigen op dinsdag 7 november 2017 des middags te 12.45 uur door Dirkje Anna van Kessel geboren op 13 december 1955 te Culemborg Promotoren: Prof.dr. J.C. Grutters Prof.dr. G.T. Rijkers Copromotor: Dr. P. Zanen Paranimfen: Thijs Hoffman Joost Jacobs Dedicated to Frans Jozef†, Isabelle en Joost Jacobs Table of contents Chapter 1: General introduction, aims and outline of the thesis 3 Part I: Immunological screening