Genetics of Rare Autoimmune Diseases
The main aim of this volume is to provide an updated overview of the genetic basis of a group of complex disorders that are considered rare individually, but show a relatively high prevalence on the whole in developed countries: the rare autoimmune diseas
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Javier Martín Francisco David Carmona Editors
Genetics of Rare Autoimmune Diseases
Rare Diseases of the Immune System Series Editors: Lorenzo Emmi Domenico Prisco Editorial Board: Systemic Vasculitis L. Emmi C. Salvarani R. A. Sinico
Primary Immunodeficiency A. Plebani C. T. Baldari M. M. D’Elios
Autoimmune Disease P. L. Meroni D. Roccatello M. Matucci Cerinic L. Emmi
Systemic Fibroinflammatory Disorders A. Vaglio
Autoinflammatory Syndromes M. Gattorno F. De Benedetti R. Cimaz
Pineta, Laura Maddii Emmi (Private collection)
Javier Martín • Francisco David Carmona Editors
Genetics of Rare Autoimmune Diseases
Editors Javier Martín Institute of Parasitology and Biomedicine Lopez-Neyra CSIC Granada Spain
Francisco David Carmona Department of Genetics University of Granada Armilla Granada Spain
ISSN 2282-6505 ISSN 2283-6403 (electronic) Rare Diseases of the Immune System ISBN 978-3-030-03933-2 ISBN 978-3-030-03934-9 (eBook) https://doi.org/10.1007/978-3-030-03934-9 © Springer Nature Switzerland AG 2019 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. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
Preface
Autoimmunity is characterized by progressive tissue damage due to pathogenic processes whose primary cause is the loss of tolerance of the immune system against self-peptides of the organism. The clinical manifestations of such abnormal immune responses depend on the affected cells or tissues, resulting in a heterogeneous group of severe immune-mediated conditions known as autoimmune diseases. Autoimmune diseases have a relatively low prevalence individually, and, because of that, they are considered rare in most cases. Besides, most of them have a multifactorial etiology, in which a complex interaction between environm
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