Autoinflammatory Diseases in Pediatrics

Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. Many of these diseases share fever as a common presenting feature. Physicians need to consider AIDs in children with recurrent, unexplained fevers, when infectious and malignant causes have been discarded. This article discusses the differential diagnosis of recurrent fever in children, with a focus on AIDs. It discusses pharyngitis, and cervical adenitis and the monogenic autoinflammatory diseases that cause recurrent fevers including familial Mediterranean fever, hyper-immunoglobulin (Ig) D and periodic fever syndrome, tumor necrosis factor receptor–associated periodic syndrome, cryopyrin associated periodic syndromes, deficiency of interleukin-36 receptor antagonist, Majeed syndrome, chronic atypical neutrophilic dermatosis with lipodystrophy and increased temperature syndrome, and deficiency of the interleukin-1 receptor antagonist. In addition, the granulomatous disorders, pyogenic sterile arthritis, pyoderma gangrenosum, and acne and Blau syndrome, will be discussed.

Key points

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Viral infections are the most common cause of recurrent fevers in children.
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Autoinflammatory diseases (AIDs) should be considered in a child with recurrent or persistent fever, when infectious and malignant causes have been excluded.
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AIDs are characterized by recurrent episodes of systemic and organ-specific inflammation, and are caused by defects in the innate immune system.
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Periodic fevers with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common AID in children and occurs at regular intervals.
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Familial Mediterranean fever (FMF) is the most common monogenic AID and presents with recurrent attacks of fever, abdominal pain, arthritis, and rash that last for 1 to 3 days.