Autoinflammation and immunodeficiency
- Joost Frenkel1
© Frenkel; licensee BioMed Central Ltd. 2014
Published: 17 September 2014
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.
Mevalonate kinase deficiency
Chronic granulomatous disease
Common Variable immunodeficiency
Serious bacterial infections
Recurrent fever and humoral immunodeficiency
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.
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