Nima Rezaei, Asghar Aghamohammadi, Luigi D

Nima Rezaei, Asghar Aghamohammadi, Luigi D. Notarangelo (Eds.) Primary Immunodeficiency Diseases Nima Rezaei Asghar Aghamohammadi • Luigi D. Notarangelo (Eds.) Primary Immunodeficiency Diseases Definition, Diagnosis, and Management With 55 Figures, mostly in Color Editor-in-Chief Nima Rezaei Immunology, Asthma and Allergy Research Institute Children’s Medical Center Hospital Tehran University of Medical Sciences Tehran 14194 Iran and Section of Infection, Inflammation and Immunity School of Medicine and Biomedical Sciences The University of Sheffield S10 2RX, Sheffield UK Editorial Consultants Asghar Aghamohammadi Division of Allergy and Clinical Immunology Children’s Medical Center Hospital Tehran University of Medical Sciences Tehran 14194 Iran Luigi D. Notarangelo Division of Immunology Children’s Hospital Harvard Medical School Boston, MA 02115 USA ISBN 978-3-540-78537-8 e-ISBN 978-3-540-78936-9 Library of Congress Control Number: 2008932110 © 2008 Springer-Verlag Berlin Heidelberg This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permissions for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and appli- cation contained in this book. In every individual case the user must check such information by consulting the relevant literature. Cover design: Frido Steinen, estudio Calamar, Spain Printed on acid-free paper 5 4 3 2 1 0 springer.com Dedication This book would not have been possible without the continuous encouragement by our parents and our wives, Maryam, Soheila and Evelina. We wish to dedicate it to our children, Ariana, Hamid Reza, Fatemeh, Claudio, Marco and Giulia, with the hope that progress in diagnosis and management of these diseases may result in improved survival and quality of life for the next generations, and at the same time that international collaboration in research will happen without barriers. Whatever we have learnt, comes from our mentors. This book is therefore also dedicated to all of them, but most importantly to our patients and their families whose continuous support has guided us during the years. Foreword This new text on Primary Immunodeficiency with a recognised authority in the subject. It is a Diseases covers all aspects of these fascinating disor- tribute to the rapid establishment of facilities in ders. So much basic immunology has been learned Tehran to both diagnose and treat such patients from studies of these patients and so much more has that this book could be written in record time thus still to be understood. In addition, we know little about ensuring that it is up-to-date as well as practical. the prevalence of these genetic disorders in any coun- The wide coverage of all aspects of primary immu- try. There is also a need to increase awareness of the nodeficiency diseases provides a comprehensive text conditions if we are to be able to define the resource and will serve as a tool for experts who care for these requirements for diagnosis, genetic counselling and patients in other geographical areas and who wish to treatment in the future. spread awareness and understanding of this rapidly The recent appreciation of these conditions in expanding field. Iran and the flood of papers describing patients with primary immunodeficiency diseases make it Helen Chapel timely that many chapters in this volume should be Raif Geha authored by an Iranian investigator in combination Hans Ochs Preface Primary immunodeficiency diseases (PID) are a group disease are discussed separately. Syndromic immuno- of inborn disorders with defects in one or more com- deficiencies are briefly presented in chapter 10, whilst ponents of the immune system, characterized by some of them are explained in greater detail in other increased incidence of infections, autoimmunity and chapters. Although management of the various forms of malignancies. Although primary immunodeficiency PID is discussed in chapters 2-9, the global therapeutic diseases seem to be rare, the number of diagnosed approach to common PID represents the focus of dis- patients is growing up in the recent years and more cussion in chapter 11. than 150 different forms of PID are now known. Yet, The book is the result of valuable contributions from because of inadequate medical awareness, a significant more than 40 senior and junior scientists in this field number of patients with PID are not recognized or are from more than 30 universities worldwide. We would diagnosed late. This latency leads to an increased rate like to acknowledge the expertise of all contributors, of morbidity and mortality among the affected indi- for generously giving their time and considerable viduals. effort in preparing their respective chapters. We are Our understanding about PID is rapidly improv- also grateful to Springer for giving us the opportunity ing, and this may facilitate the accuracy of diagno- to publish this book. sis and efficiency of management. This book is an We hope that this book will be comprehensible, attempt to gather the most recent advances in this cogent, and manageable for physicians and nurses, field, and tries to provide a concise and structured who wish to learn more about primary immunodefi- review of hitherto known PID. Although the ulti- ciency diseases. Moreover, it is our hope that the book mate orientation of the book is toward practical will represent a useful resource for doctors in training as diagnosis and management, the pathophysiology of well as for specialists in clinical decision-making and diseases is also discussed. For this purpose, this book treatment planning. consists of 11 chapters. The first chapter gives an over- view on PID and presents a classification of these dis- Nima Rezaei orders. In chapters 2-9, definition, etiology, clinical Asghar Aghamohammadi manifestations, diagnosis, and management of each Luigi Notarangelo Contents 1 An Introduction to Primary 2.2 T-B+ Severe Combined Immunodeficiency Immunodeficiency Diseases . 1 (g c Deficiency, JAK3 Deficiency, IL7-Rg Deficiency, CD45 Deficiency, CD3g/ Nima Rezaei, Francisco A. Bonilla, CD3l/CD3e/CD3x Deficiencies) . 42 Kathleen E. Sullivan, Esther de Vries, 2.2.1 Definition . 42 and Jordan S. Orange 2.2.2 Etiology . 42 1.1 Definition . 1 2.2.3 Clinical Manifestations . 44 1.1.1 Background . 1 2.2.4 Diagnosis . 45 1.1.2 History. 2 2.2.5 Management . 46 1.1.3 Registries . 2 2.3 T-B- Severe Combined Immunodeficiency 1.2 Etiology . 2 (RAG1/2 Deficiencies, Artemis 1.2.1 Classification. 2 Deficiency, ADA Deficiency) . 48 1.2.2 Genetic Defects . 11 2.3.1 Definition . 48 1.2.3 Pathophysiology . 12 2.3.2 Etiology . 49 1.3 Clinical Manifestations. 14 2.3.3 Clinical Manifestations . 52 1.3.1 Infections. 14 2.3.4 Diagnosis . 52 1.3.2 Autoimmunity . 15 2.3.5 Management . 52 1.3.3 Malignancies . 19 2.4 Omenn Syndrome. 53 1.3.4 Other Manifestations . 19 2.4.1 Definition . 53 1.4 Diagnosis . 20 2.4.2 Etiology . 53 1.4.1 Warning Signs and Symptoms. 20 2.4.3 Clinical Manifestations . 53 1.4.2 Diagnostic Approach . 21 2.4.4 Diagnosis . 53 1.4.3 Laboratory Tests . 24 2.4.5 Management . 54 1.5 Management . 25 2.5 DNA Ligase IV Deficiency . 54 1.5.1 General Considerations . 25 2.5.1 Definition . 54 1.5.2 Vaccination . 26 2.5.2 Etiology . 54 1.5.3 Antibiotics . 27 2.5.3 Clinical Manifestations . 54 1.5.4 Immunoglobulin Replacement 2.5.4 Diagnosis . 55 Therapy . 28 2.5.5 Management . 55 1.5.5 Transplantation. 28 2.6 Cernunnos Deficiency . 55 1.5.6 Gene Therapy . 29 2.6.1 Definition . 55 1.5.7 Adjunct Therapies . 29 2.6.2 Etiology . 55 2.6.3 Clinical Manifestations . 55 2 Combined T and B Cell 2.6.4 Diagnosis . 55 Immunodeficiencies . 39 2.6.5 Management . 56 2.7 Purine Nucleoside Phosphorylase Françoise Le Deist, Despina Moshous, Steven J. Howe, (PNP) Deficiency . 56 Amit Nahum, Fotini D. Kavadas, Elana Lavine, 2.7.1 Definition . 56 Chaim M. Roifman, and Alain Fischer 2.7.2 Etiology . 56 2.7.3 Clinical Manifestations . 57 2.1 Introduction . 39 XII Contents 2.7.4 Diagnosis . 58 2.14.4 Diagnosis . 73 2.7.5 Management. 58 2.14.5 Management. 74 2.8 Immunoglobulin Class Switch 2.15 CD25 Deficiency. 74 Recombination Deficiencies (affecting 2.15.1 Definition . 74 CD40–CD40L) (CD40 ligand 2.15.2 Etiology. 74 Deficiency, CD40 Deficiency) . 59 2.15.3 Clinical Manifestations . 75 2.8.1 Definition . 59 2.15.4 Diagnosis . 75 2.8.2 Etiology. 59 2.15.5 Management. 76 2.8.3 Clinical Manifestations . 60 2.16 STAT5B Deficiency. 76 2.8.4 Diagnosis . 61 2.16.1 Definition . 76 2.8.5 Management. 61 2.16.2 Etiology. 76 2.9 MHC Class II Deficiency (CIITA 2.16.3 Clinical Manifestations . 77 Deficiency, RFX5 Deficiency, RFXAP 2.16.4 Diagnosis . 77 Deficiency, RFXANK Deficiency) . 62 2.16.5 Management. 78 2.9.1 Definition . 62 2.9.2 Etiology. 62 3 Predominantly Antibody 2.9.3 Clinical Manifestations .

Load more