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Diversity in clinical manifestations of autoinflammatory syndromes


The autoinflammatory syndromes (AIS) include monogenic and polygenic disorders characterized by primary dysfunction of the innate immune system.


To describe the spectrum of AIS in a Pediatric Rheumatology reference center.


Medical records of AIS patients followed until November 2010 were studied.


Fifty six patients were included: 17 CAPS, 4 TRAPS, 5 HIDS, 18 FMF, 6 CRMO, 2 SAPHO and 4 Behcet. The median follow-up period was 2 years (0-14 years). The male/female ratio was 20/36. The median age was 2.5 years at disease onset and 4 years at diagnosis. Family history was positive in 34% of patients. Clinical manifestations included fever (79%), mucocutaneous (61%), musculoskeletal (77%), ocular (34%), cardiorespiratory (12%), gastrointestinal (62%), neurological (41%) and genitourinary (2%) findings, lymphadenopathy with/or hepatosplenomegaly (16%) and growth impairment (27%). Seven patients presented severe manifestations: neonatal peritonitis (1 CAPS), pancreatitis (1 TRAPS), acute glomerulonephritis (1 FMF), complicated Henoch-Schönlein purpura (1 FMF), peritoneal adhesions with intestinal occlusion (1 FMF), periorbital pain (1 CRMO), and cerebral thrombosis (1 Behcet). One mutation was found in 93% of CAPS, and in all TRAPS patients. Two mutations were present in 11% of FMF, and in all HIDS patients. 43% of patients received colchicine, 23% steroids, and 54% biologics (Anakinra, Canakinumab, Etanercept). 57% of patients were in complete and 41% in partial remission.


AIS in children are associated with a broad spectrum of symptoms. A detailed history, thorough review of clinical symptoms and molecular testing of specific causative genes can provide early and accurate diagnosis.

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Correspondence to S Boiu.

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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.

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Boiu, S., Neven, B., Compeyrot-Lacassagne, S. et al. Diversity in clinical manifestations of autoinflammatory syndromes. Pediatr Rheumatol 9 (Suppl 1), P306 (2011).

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