Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

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Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a...

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Bibliographic Details
Main Authors: Adrian M. Shields, Alistair T. Pagnamenta, Andrew J. Pollard, OxClinWGS, Jenny C. Taylor, Holger Allroggen, Smita Y. Patel, Samantha J. L. Knight, Niko Popitsch, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Immunology
Subjects:
complement factor I
primary immunodeficiency
genomic medicine
pneumococcal infection
neuroinflammation
complement deficiency
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.01150/full

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