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Autoinflammatory Disorders

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Primary Immunodeficiency Diseases

Abstract

Autoinflammatory disorders are a group of diseases characterized by recurrent or continuous, generalized inflammation where no infectious etiology is found. Dysregulation of the innate, but not the adaptive immune system, causes autoinflammatory diseases. The study of autoinflammatory diseases has given new insight into the physiology/function of the innate immune system. Several Nod-like receptors (NLRs), in particular the NLRP3 inflammasome, are pivotal in autoinflammatory diseases. Other mechanisms also involved in autoinflammation include type I interferons, NF-κB and defective regulatory mechanisms with unopposed signalling.

The term was first used for Mendelian inherited periodic fever syndromes. The concept of autoinflammatory disorders has expanded and now at least 25 separate genes are implicated in the monogenetic diseases as well as an increasing number of polygenic and multifactorial diseases.

Common symptoms during attacks/episodes of autoinflammatory diseases are malaise, fever, skin rash, arthritis/arthralgia, abdominal pain and CNS manifestations. The patients often have an intense inflammatory reaction during the attacks, but may also have subclinical inflammation between attacks.

Onset of the disease is generally in childhood or adolescence but may present in adulthood. The first disease (and also the most common) to have its gene characterized was Familial Mediterranean fever (FMF).

Patients are at risk of AA amyloidosis, the most serious long-term sequel of chronic inflammation. They should receive appropriate anti-inflammatory treatment, with the aim of preventing episodes, inflammation and AA amyloidosis as well as improved quality of life and a normal life span.

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Authors and Affiliations

  1. Department of Pediatrics, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden

    Stefan Berg MD, PhD

  2. Department of Pediatrics, University of Gothenburg, NU-Hospital Group, Uddevalla, Sweden

    Per Wekell MD, PhD

  3. Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden

    Anders Fasth MD, PhD

  4. Royal Free Hospital London NHS Foundation Trust, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London, UK

    Philip N. Hawkins MBBS, PhD, FMedSci & Helen Lachmann MA, MB, BChir, MD, FRCP, FRCPath

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  1. Stefan Berg MD, PhD
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  2. Per Wekell MD, PhD
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  5. Helen Lachmann MA, MB, BChir, MD, FRCP, FRCPath
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  1. Research Center for Immunodeficiencies, Children's Medical Center Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  2. Department of Immunology and Biology School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Asghar Aghamohammadi

  3. Division of Immunology, Boston Children's Hospital Harvard Medical School, Boston, Massachusetts, USA

    Luigi D. Notarangelo

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Berg, S., Wekell, P., Fasth, A., Hawkins, P.N., Lachmann, H. (2017). Autoinflammatory Disorders. In: Rezaei, N., Aghamohammadi, A., Notarangelo, L. (eds) Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52909-6_7

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