Genetics of Rare Autoimmune Diseases

  • Javier Martín
  • Francisco David Carmona

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

Bibliographic information

  • DOI
  • Copyright Information Springer Nature Switzerland AG 2019
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-030-03933-2
  • Online ISBN 978-3-030-03934-9
  • Series Print ISSN 2282-6505
  • Series Online ISSN 2283-6403
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals
Internal Medicine & Dermatology