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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

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Volume 49, Issue 5


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

Donato Rigante / Ettore Capoluongo
  • Department of Biochemistry and Clinical Biochemistry, Università Cattolica Sacro Cuore, Rome, Italy
  • Other articles by this author:
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Published Online: 2011-01-31 | DOI: https://doi.org/10.1515/CCLM.2011.127


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

About the article

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

Received: 2010-11-02

Accepted: 2010-11-27

Published Online: 2011-01-31

Published in Print: 2011-05-01

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

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©2011 by Walter de Gruyter Berlin New York. Copyright Clearance Center

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Hernández S. Pamela
Revista Médica Clínica Las Condes, 2012, Volume 23, Number 4, Page 473
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Achille Stabile, Adele Compagnone, Salvatore Napodano, Carmela Gerarda Luana Raffaele, Maria Patti, and Donato Rigante
Rheumatology International, 2013, Volume 33, Number 12, Page 3039
Francesco Caso, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Luisa Costa, Mariangela Atteno, Adele Compagnone, Paolo Caso, Bruno Frediani, Mauro Galeazzi, Leonardo Punzi, and Luca Cantarini
International Journal of Rheumatology, 2013, Volume 2013, Page 1
Francesco Caso, Luca Cantarini, Orso Maria Lucherini, Paolo Sfriso, Maria Fioretti, Luisa Costa, Antonio Vitale, Mariangela Atteno, Mauro Galeazzi, Isabella Muscari, Flora Magnotti, Bruno Frediani, Leonardo Punzi, and Donato Rigante
Modern Rheumatology, 2014, Volume 24, Number 3, Page 381
Antonio Vitale, Donato Rigante, Orso Maria Lucherini, Francesco Caso, Isabella Muscari, Flora Magnotti, Maria Giuseppina Brizi, Susanna Guerrini, Maria Patti, Leonardo Punzi, Mauro Galeazzi, and Luca Cantarini
Mediators of Inflammation, 2013, Volume 2013, Page 1
Donato Rigante
Autoimmunity Reviews, 2012, Volume 11, Number 5, Page 348

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