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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

12 Issues per year

IMPACT FACTOR 2013: 2.955
Rank 5 out of 29 in category Medical Laboratory Technology in the 2013 Thomson Reuters Journal Citation Report/Science Edition



The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation

1 / Ettore Capoluongo2

1Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy

2Department of Biochemistry and Clinical Biochemistry, Università Cattolica Sacro Cuore, Rome, Italy

Corresponding author: Donato Rigante, MD, Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Largo A. Gemelli, 8, 00168 Rome, Italy Phone: +39 0630154290, Fax: +39 063383211

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 49, Issue 5, Pages 783–791, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2011.127, January 2011

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Autoinflammatory diseases (AID) are inherited errors of innate immunity which, although individually uncommon, collectively set up an emerging chapter of medicine. Careful analysis and identification of AID is essential to prompt effective treatment and improve survival and quality of life in these patients. Research into pediatric AID is lagging behind studies in adults, though a better understanding of AID in infancy could lead to improved diagnostic protocols and reduce long-term disability. This review provides a detailed summary of monogenic AID in childhood to help pediatricians correctly recognize these conditions and also highlight recent developments in the laboratory diagnostic work-up.

Keywords: autoinflammatory disease; child

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