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Neonatal infections 

Neonatal infections
Chapter:
Neonatal infections
DOI:
10.1093/med/9780198729228.003.0023
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date: 19 November 2019

The hereditary autoinflammatory diseases (also known as periodic fever syndromes) are a heterogeneous group of syndromes characterized by activation of the innate immune system, resulting in systemic inflammation in the absence of autoantibodies. Well-defined, genetically distinct syndromes include: familial Mediterranean fever (FMF); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); mevalonate kinase deficiency (MKD); cryopyrin-associated periodic fever syndromes (CAPS); periodic fever; aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA); and deficiency of interleukin-1 receptor antagonist (DIRA). Systemic inflammation results in a combination of fever, rash, myalgia, arthritis, abdominal pain, and longer-term amyloidosis. The individual syndromes usually respond to specific treatments; these include colchicine, non-steroidal anti-inflammtory agents, tumour necrosis factor alpha blockade, or interleukin-1 inhibitors. While the development of biological agents has transformed the outlook for many of these diseases, the evidence for their use is largely anecdotal as the rarity of these conditions means that large randomized controlled trials are not feasible.

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