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Classical and non-classical presentations of complement factor I deficiency: Two contrasting cases diagnosed via genetic and genomic methods

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, diag...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.3389/fimmu.2019.01150

Authors


Shields, AM More by this author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Subgroup:
Wellcome Centre for Human Genetics
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Paediatrics
Oxford college:
St Cross College
ORCID:
0000-0001-7361-719X
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Subgroup:
Wellcome Centre for Human Genetics
Allroggen, H More by this author
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Publisher:
Frontiers Media Publisher's website
Journal:
Frontiers in Immunology Journal website
Volume:
10
Pages:
Article: 1150
Publication date:
2019-06-07
Acceptance date:
2019-05-07
DOI:
EISSN:
1664-3224
Pubs id:
pubs:1020667
URN:
uri:5626e9c0-d0dc-4271-9914-5a6cf237df0b
UUID:
uuid:5626e9c0-d0dc-4271-9914-5a6cf237df0b
Local pid:
pubs:1020667

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