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  • Invited speaker presentation
  • Open Access

Autoinflammation and immunodeficiency

  • 1
Pediatric Rheumatology201412 (Suppl 1) :I34

  • Published:


  • Public Health
  • Immune System
  • Infectious Disease
  • Host Defense
  • Patient Management

Autoinflammatory diseases are characterized by more or less spontaneous inflammation without inciting infection or autoimmunity.

These can be either acquired or genetically determined. The latter –hereditary– autoinflammatory syndromes have been classified by some as primary immunodeficiencies: defects affecting the control of the innate arm of the immune system. Immunodeficiency syndromes, however, have generally been considered to be defects in host defense, rendering the patient susceptible to infectious diseases.

Even when regarding immunodeficiency and autoinflammation as separate entities, situations do occur where patients suffer both non-specific sterile inflammation and increased susceptibility to infection. This may occur in prototypic autoinflammatory diseases as well as in well recognized primary immunodeficiencies. In addition, there are intermediate disorders that are both autoinflammatory and immunodeficient by nature (table 1).

Table 1


Autoinflammatory disease

Mixed disorder

Innate immunodeficiency

Adaptive immunodeficiency


Mevalonate kinase deficiency


Chronic granulomatous disease

Common Variable immunodeficiency

Rag1 deficiency


Serious bacterial infections

Recurrent fever and humoral immunodeficiency

Sterile granulomata

Sterile granulomata

Diagnosis of infection in autoinflammatory diseases is challenging, as these occur against a background of recurrent fever episodes. Conversely, ruling out infection is a prerequisite for diagnosing autoinflammation in immunodeficiency.

This distinction is relevant for patient management, since some autoinflammatory patients may benefit from antimicrobial prophylaxis, whereas sterile inflammation in immunodeficiency may benefit from approaches such as interleukin-1 blockade.

Disclosure of interest

J Frenkel Consultant for: Novartis Pharma.

Authors’ Affiliations

Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands


© Frenkel; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.