ABSTRACT
The levels of serum IL-6, IL-10, and TNF-α in patients with systemic lupus erythematosus (SLE) and their value in clinical practice were studied. A total of 68 patients with active SLE treated in our hospital between March 2015 and January 2018 were enrolled into the active SLE group, and they were divided into three groups according to the mild, moderate, and heavy active periods, and also divided into two groups according to the positive and negative anti dsDNA. A total of 60 healthy individuals in the same period were included in the control group (con group). The levels of serum IL-6, IL-10, and TNF-α in all participants were detected via an enzyme-linked immunosorbent assay (ELISA), and the correlation of these values with SLE activity was analyzed. The independent prognostic factors were analyzed through multivariate logistic regression. It was found that the levels of serum IL-6, IL-10, and TNF-α in the SLE groups were all higher than those in the control group; the levels of the inflammatory markers in the severe active SLE group were higher than those in the mild and moderate active SLE groups, and the levels in the moderate active SLE group were higher than those in the mild active SLE group. Additionally, the anti dsDNA positive group showed much higher levels of these than the anti dsDNA negative group. Pearson correlation analysis revealed a positive correlation between anti dsDNA antibody and IL-6, IL-10, and TNF-α levels. The multivariate logistic regression results, the mean course of disease and IL-10 were independent prognostic factors of SLE. The abnormal secretion of peripheral blood cytokines in SLE patients can affect the prognosis of the disease. Monitoring serum cytokines is helpful to understand the activity and prognosis of patients with lupus and guide clinical treatment.
ABSTRACT
OBJECTIVE To analyze the laboratory phenotype and FXII gene mutation in a consanguineous Chinese pedigree affected with factor XII (FXII) deficiency. METHODS Activated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen (FXII:Ag) of the proband and her family members (10 individuals from 3 generations) were determined. Sanger sequencing was used to detect potential mutation within the 14 exons, their flanking regions and 5',3'-untranslated regions of the FXII gene. Suspected mutations were verified by backward sequencing. Conservation of the amino acids were analyzed with ClustalX-2.1-win. Four online bioinformatics software (PolyPhen-2, PROVEAN, SIFT and MutationTaster) were used to assess the impact of the mutations on the protein function. RESULTS The APTT of the proband and her elder brother have prolonged to 61.6 s and 68.6 s,and their FXII:C and FXII:Ag have decreased to 12%, 10% and 11%, 10%, respectively. The APTT of the paternal grandmother, maternal grandmother, father, mother, elder paternal aunt and elder maternal aunt were all normal, but their FXII:C and FXII:Ag have reduced to half of the normal value. Gene sequencing found that the proband and her elder brother have both carried a homozygous missense c.1078G>A (p.Gly341Arg) mutation in exon 10 of the FXII gene, for which the paternal grandmother, maternal grandmother, father, mother, elder paternal aunt and elder maternal aunt were heterozygous. Bioinformatic analysis suggested that the Gly341 is highly conserved, while p.Gly341Arg is a harmful mutation which may cause disease by affecting the function of FXII protein. CONCLUSION Homozygous p.Gly341Arg mutation, caused by consanguineous marriage, probably underlies the congenital FXII deficiency in this pedigree.
