Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside
Identifieur interne : 000737 ( Main/Exploration ); précédent : 000736; suivant : 000738Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside
Auteurs : Ottavia Maria Delmonte [États-Unis] ; Riccardo Castagnoli [États-Unis, Italie] ; Enrica Calzoni [États-Unis, Italie] ; Luigi Daniele Notarangelo [États-Unis]Source :
- Frontiers in Pediatrics [ 2296-2360 ] ; 2019.
Abstract
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and malignancy. The treatment is challenging as it requires careful balancing of immunosuppression in subjects at increased risk of infections. Recently, the improved ability to define inborn errors of immunity pathophysiology at the molecular level has set the basis for the development of targeted therapeutic interventions. Such a “precision medicine” approach is mainly bases on the use of available small molecules and biologics to target a specific cell function. In this article, we summarize the clinical and laboratory features of various recently described inborn errors of immunity associated with immune dysregulation and hyperinflammation in which mechanism-based therapeutic approaches have been implemented.
Url:
DOI: 10.3389/fped.2019.00353
PubMed: 31508401
PubMed Central: 6718615
Affiliations:
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Nocivelli Institute for Molecular Medicine, University of Brescia</institution>,<addr-line>Brescia</addr-line>,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Notarangelo, Luigi Daniele" sort="Notarangelo, Luigi Daniele" uniqKey="Notarangelo L" first="Luigi Daniele" last="Notarangelo">Luigi Daniele Notarangelo</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health</institution>,<addr-line>Bethesda, MD</addr-line>,<country>United States</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Frontiers in Pediatrics</title><idno type="eISSN">2296-2360</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and malignancy. 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Moltke J">J von Moltke</name></author><author><name sortKey="Tenthorey, Jl" uniqKey="Tenthorey J">JL Tenthorey</name></author><author><name sortKey="Lee, Ay" uniqKey="Lee A">AY Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Barsalou, J" uniqKey="Barsalou J">J Barsalou</name></author><author><name sortKey="Blincoe, A" uniqKey="Blincoe A">A Blincoe</name></author><author><name sortKey="Fernandez, I" uniqKey="Fernandez I">I Fernandez</name></author><author><name sortKey="Dal Soglio, D" uniqKey="Dal Soglio D">D Dal-Soglio</name></author><author><name sortKey="Marchitto, L" uniqKey="Marchitto L">L Marchitto</name></author><author><name sortKey="Selleri, S" uniqKey="Selleri S">S Selleri</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fischer, A" uniqKey="Fischer A">A Fischer</name></author><author><name sortKey="Hacein Bey Abina, S" uniqKey="Hacein Bey Abina S">S Hacein-Bey Abina</name></author><author><name 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sortKey="Castagnoli, Riccardo" sort="Castagnoli, Riccardo" uniqKey="Castagnoli R" first="Riccardo" last="Castagnoli">Riccardo Castagnoli</name></noRegion><name sortKey="Calzoni, Enrica" sort="Calzoni, Enrica" uniqKey="Calzoni E" first="Enrica" last="Calzoni">Enrica Calzoni</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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