ANCA-Associated Vasculitis

  • Francesco Bonatti
  • Alessia Adorni
  • Antonio Percesepe
  • Augusto VaglioEmail author
  • Davide Martorana
Part of the Rare Diseases of the Immune System book series (RDIS)


ANCA-associated vasculitis (AAV) is a group of disorders characterized by inflammation affecting small blood vessels. AAV includes microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA, formerly Wegener’s granulomatosis), and eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss syndrome). AAV can be considered a complex disease; in fact, both genetic and environmental factors are involved in its susceptibility. To improve the understanding of the disease, the genetic component has been extensively studied by candidate-gene and genome-wide association studies. Most of the identified genetic AAV risk factors are common variants, whose functional importance still needs further investigation. In this chapter, we discuss the results of genetic studies in AAV. We also present novel approaches to identify the causal variants in complex susceptibility loci and disease mechanisms. Finally, we discuss the challenges in translating genomic data into clinical practice.


Vasculitis Antineutrophil cytoplasmic antibody (ANCA) ANCA-associated vasculitis (AAV) Multifactorial disease Genome-wide association studies (GWASs) Immunochip Microscopic polyangiitis (MPA) Granulomatosis with polyangiitis (GPA) Eosinophilic granulomatosis with polyangiitis (EGPA) 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Francesco Bonatti
    • 1
  • Alessia Adorni
    • 2
  • Antonio Percesepe
    • 1
    • 3
  • Augusto Vaglio
    • 4
    Email author
  • Davide Martorana
    • 3
  1. 1.Department of Medicine and SurgeryUniversity of ParmaParmaItaly
  2. 2.Hematology and Clinical ImmunologyDepartment of Medicine, University of PerugiaPerugiaItaly
  3. 3.Unit of Medical GeneticsUniversity Hospital of ParmaParmaItaly
  4. 4.Nephrology UnitMeyer Children’s HospitalFlorenceItaly

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