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- Title
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
- Authors
Shields, Adrian M.; Pagnamenta, Alistair T.; Pollard, Andrew J.; Taylor, Jenny C.; Allroggen, Holger; Patel, Smita Y.; Knight, Samantha J. L.; Popitsch, Niko; Camps, Carme; Pentony, Melissa M.; Kvikstad, Erika M.; Lange, Lukas; Hashim, Mona; Harris, Steve; Tilley, Mark; Vavoulis, Dimitris; Kaisaki, Pamela; Ragoussis, Vassilis; Feral, Matteo; Schuh, Anna H.
- Abstract
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 high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.
- Subjects
NEUROLOGICAL disorders; DIAGNOSIS; BACTERIAL diseases; GENETICS; RARE diseases
- Publication
Frontiers in Immunology, 2019, pN.PAG
- ISSN
1664-3224
- Publication type
Article
- DOI
10.3389/fimmu.2019.01150