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Downloaded from http://journals.lww.com/co-allergy by BhDMf5ePHKbH4TTImqenVJ2toCr/9wZZjwPUWvYES9lBjFbu9i0DAnSw4JagSjiU on 10/30/2020 REVIEW URRENT Human primary immunodeficiencies causing defects PINION in innate immunity Tiffany Wong, Joanne Yeung, Kyla J. Hildebrand, Anne K. Junker, and Stuart E. Turvey Purpose of review There have been exciting recent advances in identifying new mutations that cause human primary immunodeficiencies which impact innate immune defences. In this review, we will highlight the most important and influential advances published in the last 18 months related to the defects of the innate immune system. We will also provide clinical context to facilitate the incorporation of these discoveries into clinical practice. Recent findings We will specifically focus on three areas that have seen recent significant advances: defects in Toll-like receptor signalling that enhance susceptibility to viral infection, particularly herpes simplex encephalitis; defects in innate immunity that impact phagocyte function predisposing to mycobacterial infection; and the discovery of genes responsible for isolated congenital asplenia. Summary The field of innate immunodeficiency has benefited greatly from the recent improvements in genome sequencing technology and has advanced dramatically in the last 18 months. For clinicians confronted with patients with suspected innate immunodeficiency, these new discoveries not only increase the likelihood that a patient will receive a
Current Opinion in Allergy & Clinical Immunology – Wolters Kluwer Health
Published: Dec 1, 2013
Keywords: herpes simplex encephalitis,innate immunity,isolated congenital asplenia,Mendelian susceptibility to mycobacterial disease,primary immunodeficiency,Toll-like receptors
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