© 2019

Genetics of Rare Autoimmune Diseases

  • Javier Martín
  • Francisco David Carmona
  • Comprehensive overview of the genetic predisposition to rare autoimmune diseases

  • Includes relevant insights into the shared genetic component of autoimmunity

  • Written by renowned clinicians and researchers with high expertise in the field


Part of the Rare Diseases of the Immune System book series (RDIS)

Table of contents

  1. Front Matter
    Pages i-viii
  2. Susan K. Vester, Timothy J. Vyse
    Pages 1-17
  3. Elena López-Isac, Marialbert Acosta-Herrera, Javier Martín
    Pages 19-35
  4. Lourdes Ortiz-Fernández, Maria Francisca González-Escribano
    Pages 37-51
  5. Laëtitia Le Pottier, Kahina Amrouche, Amandine Charras, Anne Bordron, Jacques-Olivier Pers
    Pages 53-94
  6. Ana Márquez, Ernesto Trallero-Araguás, Albert Selva-O’Callaghan
    Pages 95-110
  7. Francesco Bonatti, Alessia Adorni, Antonio Percesepe, Augusto Vaglio, Davide Martorana
    Pages 111-128
  8. Francisco David Carmona, Javier Martín, Miguel A. González-Gay
    Pages 129-149
  9. Elizabeth Gensterblum, Amr H. Sawalha
    Pages 151-162
  10. David González-Serna, Martin Kerick, Javier Martín
    Pages 163-182
  11. Antonio Alcina, Maria Fedetz, Fuencisla Matesanz
    Pages 183-202
  12. Güher Saruhan-Direskeneli, Amr H. Sawalha
    Pages 203-219
  13. Gisela Orozco, Blanca Rueda
    Pages 221-236
  14. Back Matter
    Pages 237-240

About this book


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 diseases. These are chronic disorders that involve long and expensive treatments with considerable side effects that may dramatically reduce the quality of life of affected people. Therefore, shedding light into their pathologic mechanisms is a major concern given their growing social and economic awareness and impact.

General sections include different chapters on single entities as systemic lupus and sclerosis, Behçet’s disease, Sjogren’s syndrome and polymiositis, and sections devoted to autoimmune vasculitis, hepatic autoimmune conditions, as well as those affecting the nervous system, and a concluding chapter in which the shared predisposition amongst all diseases is discussed. All the chapters are given a homogeneous scheme in which the authors explain the clinical singularities of every disease and report the recent breakthrough discoveries related to them, giving a critical interpretation and suggesting future perspectives. All contributors are renowned researchers with high expertise in each disease. Due to the exponential increase in our understanding of the genetic causes of these complex diseases, a major advance in biomedical discovery is taking place. However, most of the achievements in this field are very recent and there is a lack of bibliography gathering them together. This book is thus filling a gap and will prove a useful companion to clinicians in the first place (internists, rheumatologists, clinical immunologists, and hematologists) but also to basic and applied researchers.


Genomics Autoimmunity Biomarkers Systemic sclerosis Systemic Lupus Erythematosus Behçet disease Sjorgren's syndrome Polymiositis Dermatomyositis ANCA-associated vasculitis Giant cell arteritis Takayasu arteritis Kawasaki disease Hepatic autoimmune condiitons Biliary cirrhosis Sclerosing cholangitis Autoimmune hepatitis Multiple sclerosis Myastenia gravis shared genetic component

Editors and affiliations

  • Javier Martín
    • 1
  • Francisco David Carmona
    • 2
  1. 1.Institute of Parasitology and BiomedicineLopez-NeyraCSICSpain
  2. 2.Department of GeneticsUniversity of GranadaArmillaSpain

About the editors

Javier Martin is Professor of Human Genetics at the Instituto de Parasitologia y Biomedicina, Spanish National Research Council (CSIC) belonging to the Spanish Ministry of Science and Innovation. He trained at the Medical School, University of Granada (1996-1982), PhD in Immunology, Department of Immunology Hospital Virgen de las Nieves Granada (1983-1987) and Postdoctoral training, Dpt. Immunology, Mayo Clinic, Rochester, MN,USA (1987-1990).  His research interest is the study of the genetic basis of complex traits and common diseases, with a special focus on human autoimmune diseases with rheumatic component.  We aim at identifying novel disease loci and provide functional and clinical relevance for Systemic Sclerosis, Rheumatoid Arthritis and Giant Cell Arteritis through genome-wide association studies (GWAS) and next generation sequencing (NGS) approaches. He is the author of more than 500 scientific publications, and Principal Investigator of 25 national and international grants.

F. David Carmona is a "Ramón y Cajal" researcher of the Department of Genetics and the Institute of Biotechnology of the University of Granada, Spain. Although his scientific career has been relatively multidisciplinary, Genetics has been always a common topic in his research. He obtained his PhD at the Department of Genetics of the University of Granada. Afterwards, he did a first postdoc in the "Institute of Medical Sciences" of the University of Aberdeen (UK). From 2010 to 2016, he worked at the "Institute of Parasitology and Biomedicine López-Neyra" (CSIC, Spain) in Javier Martin's group. He was mostly motivated by the study of the genetic basis of complex diseases, especially vasculitides. In this regard, he was directly involved in the recent publications of the two first large-scale genetic analyses on giant cell arteritis. Currently, he is PI of a research grant of the Spanish Ministry of Science and Innovation aimed at unravelling the genetic component of non-obstructive azoospermia. He has published more than 50 papers in JRC journals.

Bibliographic information

  • Book Title Genetics of Rare Autoimmune Diseases
  • Editors Javier Martín
    Francisco David Carmona
  • Series Title Rare Diseases of the Immune System
  • Series Abbreviated Title Rare Diseases of Immune System
  • DOI
  • Copyright Information Springer Nature Switzerland AG 2019
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-3-030-03933-2
  • eBook ISBN 978-3-030-03934-9
  • Series ISSN 2282-6505
  • Series E-ISSN 2283-6403
  • Edition Number 1
  • Number of Pages VIII, 240
  • Number of Illustrations 2 b/w illustrations, 10 illustrations in colour
  • Topics Rheumatology
    Human Genetics
  • Buy this book on publisher's site
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