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Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis

(2013) JOURNAL OF CLINICAL IMMUNOLOGY. 33(8). p.1293-1301
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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. Complement assays and measurement of FI activity were performed in the patient, her family, factor H-deficient patients, a patient with C3-nephritic factor and 11 healthy controls. Genetic sequencing of the FI coding regions in the patient and her parents was performed. The patient had absent alternative pathway activity with low levels of C3 and normal serum level of FI. The patient's plasma FI did not degrade C3b, with normalisation of C3b degradation after adding purified FI. Mutation analysis of the complement factor I gene revealed two heterozygous mutations (I322T and D506V). To our knowledge, this paper describes a complete FI deficiency caused by a defect of FI activity for the first time. Normal FI concentration does not exclude a complete FI defect, additional functional analysis of FI is required in any patient with a defect of complement activation. Recurrent aseptic meningo-encephalitis is a rare clinical presentation of complete FI deficiency.
Keywords
CFH, Alternative pathway regulators, IMPACT, PROTEINS, MENINGITIS, GENE, DISEASE, MUTATIONS, MOLECULAR CHARACTERIZATION, Immune-mediated vasculitis, Complement, HEMOLYTIC-UREMIC SYNDROME, FACTOR-H, Asepticmeningo-encephalitis, Complement factor I gene mutation, Dysfunctional factor I, Complete complement factor I deficiency

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Citation

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Chicago
Haerynck, Filomeen, Patrick Stordeur, Johan Vande Walle, Rudy Van Coster, Maria Bordon Cueto De Braem, Frans De Baets, Petra Schelstraete, et al. 2013. “Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-encephalitis.” Journal of Clinical Immunology 33 (8): 1293–1301.
APA
Haerynck, F., Stordeur, P., Vande Walle, J., Van Coster, R., Bordon Cueto De Braem, M., De Baets, F., Schelstraete, P., et al. (2013). Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. JOURNAL OF CLINICAL IMMUNOLOGY, 33(8), 1293–1301.
Vancouver
1.
Haerynck F, Stordeur P, Vande Walle J, Van Coster R, Bordon Cueto De Braem M, De Baets F, et al. Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. JOURNAL OF CLINICAL IMMUNOLOGY. 2013;33(8):1293–301.
MLA
Haerynck, Filomeen, Patrick Stordeur, Johan Vande Walle, et al. “Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-encephalitis.” JOURNAL OF CLINICAL IMMUNOLOGY 33.8 (2013): 1293–1301. Print.
@article{4286136,
  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.
Complement assays and measurement of FI activity were performed in the patient, her family, factor H-deficient patients, a patient with C3-nephritic factor and 11 healthy controls. Genetic sequencing of the FI coding regions in the patient and her parents was performed.
The patient had absent alternative pathway activity with low levels of C3 and normal serum level of FI. The patient's plasma FI did not degrade C3b, with normalisation of C3b degradation after adding purified FI. Mutation analysis of the complement factor I gene revealed two heterozygous mutations (I322T and D506V).
To our knowledge, this paper describes a complete FI deficiency caused by a defect of FI activity for the first time. Normal FI concentration does not exclude a complete FI defect, additional functional analysis of FI is required in any patient with a defect of complement activation. Recurrent aseptic meningo-encephalitis is a rare clinical presentation of complete FI deficiency.},
  author       = {Haerynck, Filomeen and Stordeur, Patrick and Vande Walle, Johan and Van Coster, Rudy and Bordon Cueto De Braem, Maria and De Baets, Frans and Schelstraete, Petra and Javaux, Cédric and Bouvry, Marie-Rose and Fremeaux-Bacchi, Véronique and Dehoorne, Jo},
  issn         = {0271-9142},
  journal      = {JOURNAL OF CLINICAL IMMUNOLOGY},
  keywords     = {CFH,Alternative pathway regulators,IMPACT,PROTEINS,MENINGITIS,GENE,DISEASE,MUTATIONS,MOLECULAR CHARACTERIZATION,Immune-mediated vasculitis,Complement,HEMOLYTIC-UREMIC SYNDROME,FACTOR-H,Asepticmeningo-encephalitis,Complement factor I gene mutation,Dysfunctional factor I,Complete complement factor I deficiency},
  language     = {eng},
  number       = {8},
  pages        = {1293--1301},
  title        = {Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis},
  url          = {http://dx.doi.org/10.1007/s10875-013-9944-8},
  volume       = {33},
  year         = {2013},
}

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