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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. -
NUR 6325 Family Primary Care I Fall Semester 2021 Course Information
NUR 6325 Family Primary Care I Fall Semester 2021 Department of Nursing Instructor: Avis Johnson-Smith, DNP, APRN, FNP-BC, CPNP-PC, CPMHS, CNS, FAANP Email: [email protected] Phone: 229-431-2030 Office: Virtual Office Hours: By Appointment. If you have a question and an email response would suffice, then simply let me know this when you contact me. Time Zone: All due dates and times in this syllabus are Central Standard Time (CST) Course Information Course Description The course focus is on the transition from RN to Family Nurse Practitioner in the diagnosis and management of common acute and chronic conditions across the lifespan in a primary care setting. As a provider of family-centered care emphasis is placed on health promotion, risk reduction and evidence- based management of common symptoms and problems. Nursing’s unique contribution to patient care and collaboration with other health care professionals is emphasized. Course Credits Three semester credit hours (3-0-0) This course meets completely online using Blackboard as the delivery method Prerequisite / Co-requisite Courses NUR 6201, 6318, 6323, 6324, 6331, NUR 6327 Prerequisite Skills Accessing internet web sites, use of ASU Library resources, and proficiency with Microsoft Word and/or PowerPoint are expectations of the program name. Computer access requirements are further delineated in the graduate Handbook. Tutorials for ASU Library and for Blackboard are available through RamPort. The ASU Graduate Nursing Student Handbook1 should be reviewed before taking this course. Program Outcomes Upon completion of the program of study for the MSN Program, the graduate will be prepared to: 1. -
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. -
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. -
Respiratory Drug Guidelines ______
Respiratory Drug Guidelines ______________________________________________ First Edition 2008 Ministry of Health Government of Fiji Islands 2008 "This document has been produced with the financial assistance of the European Community and World Health Organization. The views expressed herein are those of the Fiji National Medicine & Therapeutics Committee and can therefore in no way be taken to reflect the official opinion of the European Community and the World Health Organization.” Disclaimer The authors do not warrant the accuracy of the information contained in these guidelines and do not take responsibility for any deaths, loss, damage or injury caused by using the information contained herein. Every effort had been made to ensure the information contained in these guidelines is accurate and in accordance with current evidence-based clinical practice. However, if the evidence in the medical literature is either limited or not available, the recommendations in these guidelines are based on the consensus of the members of the subcommittee. In view of the dynamic nature of medicine, users of these guidelines are advised that independent pr ofessional judgment should be exercised at all times. ii Preface The publication of the Respiratory Drug Guidelines represents the culmination of the efforts of the National Medicines and Therapeutics Committee to publish clinical drug guidelines for common diseases seen in Fiji. These guidelines are targeted for health care settings. It sets the gold standards for the use of respiratory drugs in Fiji. These guidelines have taken into account the drugs available in the Fiji Essential Medicines List (EML) in recommending treatment approaches. All recommended drug therapies are either evidence-based or universally accepted standards. -
M. Kansasii Pulmonary Disease in Idiopathic CD4+ T-Lymphocytopenia
Eur Respir J, 1996, 9, 1754–1756 Copyright ERS Journals Ltd 1996 DOI: 10.1183/09031936.96.09081754 European Respiratory Journal Printed in UK - all rights reserved ISSN 0903 - 1936 CASE STUDY M. Kansasii pulmonary disease in idiopathic CD4+ T-lymphocytopenia G. Anzalone*, M. Cei**, A. Vizzaccaro+, B. Tramma*, A. Bisetti† M. Kansasii pulmonary disease in idiopathic CD4+ T-lymphocytopenia. G. Anzalone, *Centro Cardiorespiratorio I.N.A.I.L., Firenze, M. Cei, A. Vizzaccaro, B. Tramma, A. Bisetti. ERS Journals Ltd 1996. Italy. **Centro Trasfusionale Marine Militare, ABSTRACT: Cases of patients with markedly depressed CD4+ T-lymphocyte counts, La Spezia, Italy. +Reparto I^Medicina Ospe- with or without opportunistic infections, in the absence of any evidence of human dale Principale Marina Militare, La Spezia, Italy. +I^Clinica Tisiopneumologica Uni- immunodeficiency virus (HIV) have been described in recent years. In 1992, the versità di Roma, Italy. definition of "idiopathic CD4+ T-lymphocytopenia" was formulated by the Centers for Disease Control and Prevention (CDC) of Atlanta (USA). Correspondence: G. Anzalone, Centro Cardio- respiratorio I.N.A.I.L., Via Delle Porte The present case illustrates the occurrence of an unexplained Mycobacterium Nuove 61, 50144 - Firenze, Italy kansasii pneumonia in a white HIV-negative subject with a persistent depletion of CD4+ T-lymphocytes and suppression of cell-mediated immunity. Keywords: Human immunodeficiency idiopathic CD4+ T-lymphocytopenia To our knowledge, this is the first observation of idiopathic CD4+ T-lymphocyto- M. Kansasii penia with pulmonary mycobacteriosis due to Mycobacterium kansasii, and the sixth Mycobacteriosis case of this kind of immunodeficiency described in Italy. Received: August 25 1995 Eur Respir J., 1996, 9, 1754–1756. -
Pulmonary Complications of Primary Immunodeficiencies
PAEDIATRIC RESPIRATORY REVIEWS (2004) 5(Suppl A), S225–S233 Pulmonary complications of primary immunodeficiencies Rebecca H. Buckley° Departments of Pediatrics and Immunology, Duke University Medical Center, Durham, NC 27710, USA Summary In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. These disorders may involve one or more components of the immune system, including T, B, and NK lymphocytes; phagocytic cells; and complement proteins. Most are recessive traits, some of which are caused by mutations in genes on the X chromosome, others in genes on autosomal chromosomes. Until the past decade, there was little insight into the fundamental problems underlying a majority of these conditions. Many of the primary immunodeficiency diseases have now been mapped to specific chromosomal locations, and the fundamental biologic errors have been identified in more than 3 dozen. Within the past decade the molecular bases of 7 X-linked immunodeficiency disorders have been reported: X-linked immunodeficiency with Hyper IgM, X-linked lymphoproliferative disease, X-linked agammaglobulinemia, X-linked severe combined immunodeficiency, the Wiskott–Aldrich syndrome, nuclear factor úB essential modulator (NEMO or IKKg), and the immune dysregulation polyendocrinopathy (IPEX) syndrome. The abnormal genes in X-linked chronic granulomatous disease (CGD) and properdin deficiency had been identified several years earlier. In addition, there are now many autosomal recessive immunodeficiencies for which the molecular bases have been discovered. These new advances will be reviewed, with particular emphasis on the pulmonary complications of some of these diseases. In some cases there are unique features of lung abnormalities in specific defects.