Nima Rezaei Asghar Aghamohammadi Luigi D

Primary Immunodeficiency Diseases Deﬁ nition, Diagnosis, and Management Second Edition Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors 123 Primary Immunodeficiency Diseases Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors Primary Immunodeficiency Diseases Definition, Diagnosis, and Management Second Edition Editors Nima Rezaei Asghar Aghamohammadi Research Center for Immunodeficiencies Research Center for Immunodeficiencies Children’s Medical Center Children’s Medical Center Tehran University of Medical Sciences Tehran University of Medical Sciences Tehran Tehran Iran Iran Department of Immunology and Primary Immunodeficiency Diseases Biology Network (PIDNet) School of Medicine Universal Scientific Education and Tehran University of Medical Sciences Research Network (USERN) Tehran Tehran Iran Iran Network of Immunity in Infection Luigi D. Notarangelo Malignancy and Autoimmunity (NIIMA) Division of Immunology Universal Scientific Education and Boston Children’s Hospital Research Network (USERN) Harvard Medical School Tehran Boston, MA Iran USA ISBN 978-3-662-52907-2 ISBN 978-3-662-52909-6 (eBook) DOI 10.1007/978-3-662-52909-6 Library of Congress Control Number: 2016959211 © Springer-Verlag Berlin Heidelberg 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer-Verlag GmbH Germany The registered company address is: Heidelberger Platz 3, 14197 Berlin, Germany 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, Arnika, 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 dedicated also to all of them, but most importantly to our patients and their families whose continuous support has guided us over the years. Foreword With the advent of whole exome sequencing, the field of primary immunodeficiencies has exploded over the past 5 years. This updated edition ofPrimary Immunodeficiency Diseases by Nima Rezaei and a number of collaborators from around the world does a superb job of updating our knowledge of these fascinating disorders and covers all aspects for each of the diseases discussed, including current recommendations on treatment. A great deal of basic immunology has been learned from studies of these patients and much more has still to be discovered. This book addresses the need to increase awareness of the conditions worldwide and to define the resource requirements for diagnosis, genetic counseling, and treatment. The commitment of Iranian pediatric immunologists to patients with primary immunodeficiency diseases and their collaborative efforts to discover novel genetic defects and to apply state-of-the-art methods for their diagnosis and treatment are demonstrated in the many chapters in this volume authored jointly by Iranian investigators and recognized international authorities in the subject. It is a tribute to the establishment of modern facilities in Tehran to diagnose and treat such patients that this second edition includes the latest discoveries in the field, and thus is up to date as well as practical. The wide coverage of all aspects of primary immunodeficiency diseases provides a comprehensive text and will serve as a tool for experts who care for these patients in other geographical areas and who wish to spread awareness and understanding of this rapidly expanding field. It will be of great value to pediatric immunologists and will serve as a “Google-in-print” for primary immunodeficiency diseases. Boston, MA, USA Raif Geha Seattle, WA, USA Hans Ochs Oxford, UK Helen Chapel vii Preface Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders with defects in one or more components of the immune system, characterized by increased incidence of infections, autoimmunity, and malignancies. PIDs are not considered as rare conditions anymore, while the number of diagnosed patients has significantly been growing up. Nevertheless, because of inadequate medical awareness, it is estimated that a significant number of patients with PIDs are not recognized or are diagnosed late. This latency leads to a substantial increased rate of morbidity and mortality among the affected individuals. It should also be added that more than 300 different forms of PIDs have already been identified. Considering the fact that only 150 different types of PIDs had been described in the first edition of the book, it can show that how much efforts have been made during last decade in the identifi- cation of novel PIDs, which led to a twice increase in the number of described PIDs. Our understanding on PID is rapidly improving, and this may facilitate the accuracy of diagnosis and efficiency of management. This book is an attempt to gather the most recent advances in this field and tries to provide a concise and structured review of hitherto known PIDs. Although the ulti- mate orientation of this book is toward practical diagnosis and management, the pathophysiology of diseases is also discussed. For this purpose, this book consists of 10 chapters. The first chapter gives an overview on PIDs and presents a classification of these disorders. In Chaps. 2, 3, 4, 5, 6, 7, 8, and 9, definition, etiology, clinical manifestations, diagnosis, and management of each disease are discussed separately. Syndromic immunodeficiencies are also briefly presented in Chap. 10, while some of them are explained in greater detail in other chapters. This book is the result of the valuable contribution of 55 PID experts from top centers of five continents. We would like to acknowledge the expertise of all contributors, for generously giving their time and considerable effort in preparing their respective chapters. We are also grateful to Springer for giving us the opportunity to publish this book. We hope that this book will be comprehensible, cogent, and manageable for physicians and nurses, who wish to learn more about PIDs. We were very pleased that the first edition of the book was very welcomed by the scientists from all over the world. It is our hope that second edition of ix x Preface the book continues to represent a useful resource for doctors in training as well as for specialists and subspecialists in clinical decision-making and treatment planning. Tehran, Iran Nima Rezaei Tehran, Iran Asghar Aghamohammadi Boston, MA, USA Luigi Notarangelo Contents 1 Introduction on Primary Immunodeficiency Diseases �� 1 Nima Rezaei, Francisco A. Bonilla, Mikko Seppänen, Esther de Vries, Ahmed Aziz Bousfiha, Jennifer Puck, and Jordan Orange 2 Combined T- and B-Cell Immunodeficiencies �� 83 Françoise Le Deist, Despina Moshous, Anna Villa, Waleed Al-Herz, Chaim M. Roifman, Alain Fischer, and Luigi D. Notarangelo 3 Predominantly Antibody Deficiencies �� 183 Asghar Aghamohammadi, Alessandro Plebani, Vassilios Lougaris, Anne Durandy, Antonio Condino-Neto, Hirokazu Kanegane, and Lennart Hammarström 4 Phagocytes Defects �� 245 Uwe Wintergerst, Taco W. Kuijpers, Sergio D. Rosenzweig, Steven M. Holland, Mario Abinun, Harry L. Malech, and Nima Rezaei 5 Genetic Disorders of Immune Regulation �� 295 Carsten Speckmann, Arndt Borkhardt, Bobby Gaspar, Eleonora Gambineri, and Stephan Ehl 6 Defects in Intrinsic and Innate Immunity: Receptors and Signaling Components �� 339 Nima Parvaneh, Desa Lilic, Joachim Roesler, Tim Niehues, Jean-Laurent Casanova, and Capucine Picard 7 Autoinflammatory Disorders �� 393 Stefan Berg, Per Wekell, Anders Fasth, Philip N. Hawkins, and Helen Lachmann 8 Complement Deficiencies �� 437 Maryam Mahmoudi, Per H. Nilsson, Tom Eirik Mollnes, Dirk Roos, and Kathleen E. Sullivan xi xii

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