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

Donato Rigante; Ettore Capoluongo

doi:10.1515/CCLM.2011.127

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

Research output: Contribution to journal › Article

Abstract

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. © 2011 by Walter de Gruyter Berlin New York.

Original language	English
Pages (from-to)	783-791
Number of pages	9
Journal	Clinical Chemistry and Laboratory Medicine
Volume	49
DOIs	https://doi.org/10.1515/CCLM.2011.127
Publication status	Published - 2011

Keywords

child
autoinflammatory disease

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10.1515/CCLM.2011.127

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title = "The plodding diagnosis of monogenic autoinflammatory diseases in childhood: From the clinical scenery to laboratory investigation",

abstract = "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. {\textcopyright} 2011 by Walter de Gruyter Berlin New York.",

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author = "Donato Rigante and Ettore Capoluongo",

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publisher = "Walter de Gruyter and Company:Genthinerstrasse 13, D 10785 Berlin Germany:011 49 30 260050, EMAIL: [email protected], INTERNET: http://www.degruyter.de/, Fax: 011 49 30 26005338",

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T1 - The plodding diagnosis of monogenic autoinflammatory diseases in childhood: From the clinical scenery to laboratory investigation

AU - Rigante, Donato

AU - Capoluongo, Ettore

PY - 2011

Y1 - 2011

N2 - 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. © 2011 by Walter de Gruyter Berlin New York.

AB - 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. © 2011 by Walter de Gruyter Berlin New York.

KW - child

KW - autoinflammatory disease

KW - child

KW - autoinflammatory disease

UR - http://hdl.handle.net/10807/257468

U2 - 10.1515/CCLM.2011.127

DO - 10.1515/CCLM.2011.127

M3 - Article

SN - 1434-6621

VL - 49

SP - 783

EP - 791

JO - Clinical Chemistry and Laboratory Medicine

JF - Clinical Chemistry and Laboratory Medicine

ER -

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

Abstract

Keywords

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