Title |
Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis
|
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Published in |
Journal of Clinical Immunology, October 2013
|
DOI | 10.1007/s10875-013-9944-8 |
Pubmed ID | |
Authors |
Filomeen Haerynck, Patrick Stordeur, Johan Vandewalle, Rudy Van Coster, Victoria Bordon, Frans De Baets, Petra Schelstraete, Cédric Javaux, Marie-Rose Bouvry, Véronique Fremeaux-Bacchi, Joke Dehoorne |
Abstract |
Complement regulators control the activated complement system. Defects in this homeostasis can result in tissue damage and autoimmune diseases with a heterogeneity in clinical presentation. Complement factor I (FI), a serine protease, is an important regulator of alternative pathway activation. We report a diagnostic work-up of a patient with relapsing inflammatory mediated meningo-encephalitis. Our work-up revealed a rare genetic factor I (FI) deficiency. So far, all cases of reported complete factor I deficiency have absent serum levels of FI. We present here a unique case of a complete factor I deficiency based on a functional FI defect. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Denmark | 1 | 6% |
Unknown | 17 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 22% |
Student > Ph. D. Student | 4 | 22% |
Student > Bachelor | 2 | 11% |
Other | 2 | 11% |
Student > Doctoral Student | 1 | 6% |
Other | 3 | 17% |
Unknown | 2 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 39% |
Agricultural and Biological Sciences | 3 | 17% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 17% |
Psychology | 1 | 6% |
Immunology and Microbiology | 1 | 6% |
Other | 0 | 0% |
Unknown | 3 | 17% |