Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava, Clara; Álvarez de la Campa, Elena; Solanich, Xavier; Morandeira-Rego, Francisco; Mas-Bosch, Virgínia; García-Prat, Marina; de la Cruz, Xavier; Martín-Nalda, Andrea; Soler-Palacín, Pere; Hernández-González, Manuel; Colobran, Roger.
J Clin Immunol
; 37(8): 781-789, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28942469
Clinical characteristics and genotype-phenotype correlations in C3 deficiency.
Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency.
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.
Complement Component 3 Adapts the Cerebrospinal Fluid for Leptomeningeal Metastasis.
Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.
aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome.
Mutations in complement C3 from aHUS patients.
Systems Analysis of the Complement-Induced Priming Phase of Liver Regeneration.
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.