BERNADETE DE LOURDES LIPHAUS

(Fonte: Lattes)
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Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

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  • conferenceObject
    A BIOREPOSITORY AND A CLINICAL-LABORATORIAL DATABASE OF JUVENILE AUTOIMMUNE DISEASES: A RESOURCE FOR THE FUTURE
    (2013) LIPHAUS, B. L.; PATRAO, D. F. C.; REIS, J. M. A.; FONSECA, F. A. M.; NETO, F. C.; CARNEIRO-SAMPAIO, M. M. S.
  • article 6 Citação(ões) na Scopus
    Latent and Overt Polyautoimmunity in Children and Adolescents With Immune Thrombocytopenia
    (2020) KAMIOKA, Priscila E.; LIPHAUS, Bernadete L.; BEATRICE, Julia M.; MATSUMOTO, Lucy C.; REIS, Joyce M. A.; LIMA, Laila; CARNEIRO-SAMPAIO, Magda M. S.; CARNEIRO, Jorge D. A.
    Autoantibodies are biomarkers for autoimmune disease diagnosis, monitoring, and prediction. Therefore, this study established the frequency of latent and overt polyautoimmunity in children and adolescents with >6 months of diagnosis of immune thrombocytopenia (ITP). Forty-seven patients with chronic or persistent disease had non-organ-specific and organ-specific autoantibodies assessed. Frequency of latent polyautoimmunity was 36.2%, and, of overt polyautoimmunity, it was 4.3%. Of ITP patients with latent polyautoimmunity, 52.9% were positive for antinuclear antibody (ANA), 47.1% for autoantibodies other than ANA, and 64.7% for multiple autoantibodies. In addition, patients with latent polyautoimmunity and those positive for ANA were significantly older at disease onset. Both ITP patients positive and negative for autoantibodies reported family members with autoimmune diseases. The autoantibodies observed were as follows: ANA, anti-dsDNA, anti-SSA/Ro, IgM aCL, anti-GAD, anti-IA2, anti-IAA, anti-TG, anti-TPO, anti-LKM1, and SMA. Of ITP patients with overt polyautoimmunity, 1 was diagnosed with type 1 diabetes mellitus and the other with thyroiditis. In conclusion, children and adolescents with ITP present high frequency of latent and overt polyautoimmunity even for autoantibodies other than ANA. Therefore, ANA and other non-organ-specific and organ-specific autoantibodies should be considered for assessment during ITP patients' follow-up.
  • conferenceObject
    MOLECULAR CHARACTERIZATION OF COMPLEMENT C1Q, C2, AND C4 GENES IN JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS
    (2013) LIPHAUS, B. L.; UMETSU, N.; BANDO, S.; JESUS, A. A.; ANDRADE, L. E. C.; SILVA, C. A.; CARNEIRO-SAMPAIO, M.
  • article 31 Citação(ões) na Scopus
    Inflammasome polymorphisms in juvenile systemic lupus erythematosus
    (2015) PONTILLO, Alessandra; REIS, Edione C.; LIPHAUS, Bernadete L.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, Magda
    Inflammasome is the cytoplasmic complex responsible for pro-IL1 cleavage and secretion of IL-1. Recently our group reported the first association between polymorphisms in the inflammasome receptor NLRP1 and adult-onset systemic lupus erythematosus (SLE) di per se and especially in SLE-associated renal disease, suggesting the involvement of NLRP1-inflammasome in the immune dysregulation characteristic of SLE patients. Considering that juvenile-onset SLE (JSLE) is more severe than adult SLE, and that the genetic background plays a major role in the early development of autoimmune diseases, we analysed selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, IL1B, TNFAIP3) of children and adolescents with JSLE (n=90) and in healthy controls (n=144). A single polymorphism in IL1B, and not NLRP1, gene resulted in association with JSLE, suggesting that IL-1 is involved in the pathogenesis of SLE, but different genes could play specific role in adult- or early-onset disease.
  • article 9 Citação(ões) na Scopus
    Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus
    (2015) LIPHAUS, Bernadete L.; UMETSU, Natalia; JESUS, Adriana A.; BANDO, Silvia Y.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, Magda
    OBJECTIVE: To perform a molecular characterization of the C1q, C2 and C4 genes in patients with juvenile systemic lupus erythematosus. METHODS: Patient 1 (P1) had undetectable C1q, patient 2 (P2) and patient 3 (P3) had decreased C2 and patient 4 (P4) had decreased C4 levels. All exons and non-coding regions of the C1q and C2 genes were sequenced. Mononuclear cells were cultured and stimulated with interferon gamma to evaluate C1q, C2 and C4 mRNA expression by quantitative real-time polymerase chain reaction. RESULTS: C1q sequencing revealed heterozygous silent mutations in the A (c.276 A>G Gly) and C (c.126 C>T Pro) chains, as well as a homozygous single-base change in the 39 non-coding region of the B chain (c*78 A>G). C1qA mRNA expression without interferon was decreased compared with that of healthy controls (p<0.05) and was decreased after stimulation compared with that of non-treated cells. C1qB mRNA expression was decreased compared with that of controls and did not change with stimulation. C1qC mRNA expression was increased compared with that of controls and was even higher after stimulation. P2 and P3 had Type I C2 deficiency (heterozygous 28 bp deletion at exon 6). The C2 mRNA expression in P3 was 23 times lower compared with that of controls and did not change after stimulation. The C4B mRNA expression of P4 was decreased compared with that of controls and increased after stimulation. CONCLUSIONS: Silent mutations and single-base changes in the 3' non-coding regions may modify mRNA transcription and C1q production. Type I C2 deficiency should be evaluated in JSLE patients with decreased C2 serum levels. Further studies are needed to clarify the role of decreased C4B mRNA expression in JSLE pathogenesis.
  • conferenceObject
    Altered Apoptosis Profile and Associated Soluble Factors In Patients With Juvenile-Onset Systemic Lupus Erythematosus
    (2013) LIPHAUS, Bernadete; KISS, Maria H. B.; CARRASCO, Solange; GOLDENSTEIN-SCHAINBERG, Claudia
  • article 1 Citação(ões) na Scopus
    Increased Soluble Cytoplasmic Bcl-2 Protein Serum Levels and Expression and Decreased Fas Expression in Lymphocytes and Monocytes in Juvenile Dermatomyositis
    (2018) LIPHAUS, Bernadete L.; SALLUM, Adriana E. M.; AIKAWA, Nadia E.; KISS, Maria Helena B.; CARRASCO, Solange; PALMEIRA, Patricia; LIMA, Laila; SILVA, Clovis A.; GOLDENSTEIN-SCHAINBERG, Claudia; CARNEIRO-SAMPAIO, Magda
    Objective. To evaluate soluble Fas antigen (sFas), sFas ligand (sFasL), soluble tumor necrosis factor-related apoptosis-inducing ligand, and soluble cytoplasmic Bcl-2 protein (sBcl-2) serum levels, Fas and Bcl-2 expressions in T and B lymphocytes and monocytes and relations with erythrocyte sedimentation rate, C-reactive protein (CRP), Childhood Myositis Assessment Scale, and manual muscle testing in juvenile dermatomyositis (JDM). Methods. Serum levels were determined by ELISA and peripheral cell expressions by flow cytometry for patients with JDM or juvenile idiopathic arthritis (JIA), and healthy controls. Results. Patients with JDM had increased sBcl-2, which correlated with CRP. Expression of Bcl-2 was increased and expression of Fas was decreased in CD3+, CD4+, and CD8+ T lymphocytes compared with JIA and/or healthy controls. Conclusion. Patients with JDM presented a unique apoptosis-related proteins profile, which may contribute to disease development.
  • article 11 Citação(ões) na Scopus
    LRBA deficiency: a new genetic cause of monogenic lupus
    (2020) LIPHAUS, Bernadete L.; CARAMALHO, Iris; RANGEL-SANTOS, Andreia; SILVA, Clovis A.; DEMENGEOT, Jocelyne; CARNEIRO-SAMPAIO, Magda Maria Salles
  • article 6 Citação(ões) na Scopus
    Reduced expressions of Fas and Bcl-2 proteins in CD14+monocytes and normal CD14 soluble levels in juvenile systemic lupus erythematosus
    (2013) LIPHAUS, B. L.; KISS, M. H. B.; CARRASCO, S.; GOLDENSTEIN-SCHAINBERG, C.
    In order to evaluate Fas and Bcl-2 expressions in CD14+ monocytes, to measure soluble CD14 serum levels and to analyze the relationships with lupus nephritis and disease activity, we enrolled 41 patients with juvenile systemic lupus erythematosus (JSLE) and 27 healthy volunteers. Disease activity was determined by SLEDAI score. Peripheral monocytes were stained for CD14, Fas and Bcl-2 molecules, and cellular expressions were determined by flow cytometry. Soluble CD14 levels were measured by a quantitative ELISA kit. JSLE patients, those with active disease and those with nephritis, presented significantly reduced expressions of Fas and Bcl-2 proteins in CD14+ monocytes compared with healthy controls. Significant inverse correlations between percentages of CD14+Fas+ cells, SLEDAI score and anti-dsDNA antibodies were observed. JSLE patients had soluble CD14 levels similar to controls, although sCD14 levels positively correlated with ESR, but not with SLEDAI score. JSLE patients with nephritis also presented sCD14 levels similar to controls. In conclusion, the reduced expressions of Fas and Bcl-2 proteins in CD14+ monocytes from JSLE patients depict that monocyte apoptotic mechanisms may be important in lupus pathogenesis.
  • article 16 Citação(ões) na Scopus
    Anti-C1q, anti-chromatin/nucleosome, and anti-dsDNA antibodies in juvenile systemic lupus erythematosus patients
    (2012) JESUS, Adriana Almeida de; CAMPOS, Lucia Maria Arruda; LIPHAUS, Bernadete Lourdes; CARNEIRO-SAMPAIO, Magda; MANGUEIRA, Cristovao Luis Pitangueira; ROSSETO, Eliane Aparecida; SILVA, Clovis Artur Almeida da; SCHEINBERG, Morton
    Objectives: To evaluate the presence of anti-C1q, anti-chromatin/nucleosome and anti-double stranded DNA (dsDNA) antibodies in juvenile systemic lupus erythematosus (JSLE) and controls. Methods: Sixty-seven JSLE and 34 healthy controls were analyzed for the presence of anti-C1q, anti-chromatin/nucleosome, and anti-dsDNA antibodies by ELISA. C1q levels were evaluated by radial immunodiffusion. Results: The mean current age was similar in JSLE patients and controls (14.6 +/- 3.86 vs. 13.6 +/- 2.93 years, P = 0.14). Higher frequencies of anti-C1q, anti-chromatin/nucleossome, and anti-dsDNA antibodies were observed in JSLE compared to controls (20% vs. 0%, P = 0.0037; 48% vs. 0%, P < 0.0001 and 69% vs. 3%, P < 0.0001, respectively). The median of anti-C1q, anti-chromatin/nucleossome, and anti-dsDNA antibodies were also significantly higher in JSLE patients than in controls [9.6 (5.5-127) vs. 7.5 (5-20) units, P = 0.0006; 18(1.9-212) vs. 3.2 (1.7-17) units, P < 0.0001; and 111 IU/mL (6-741) vs. 14(6-33) IU/mL; P < 0.0001, respectively]. The sensitivity for anti-C1q, anti-chromatin/nucleosome, and anti-dsDNA antibodies was 21% (CI: 11-33), 49% (CI: 36-62), and 70% (CI: 57-81). The specificity was 100% (CI: 88-100), 100% (88-100), and 97% (CI: 83-99), respectively. A positive correlation was found between anti-dsDNA levels and both anti-C1q (r = 0.51; CI: 0.29-0.68; P < 0.0001) and anti-chromatin/nucleosome antibodies (r = 0.87; CI: 0.79-0.92; P < 0.0001) levels. A negative correlation was observed between anti-C1q and C1q levels (r = -0.33; CI: -0.56-0.05; P = 0.018). The frequency of anti-dsDNA was higher in patients with SLEDAI-2K >= 1 (P = 0.0047) and no differences were observed in the frequencies of these three autoantibodies and nephritis (P > 0.05). Conclusion: Our study demonstrated an elevated specificity for lupus diagnosis involving the three autoantibodies, especially anti-C1q and anti-chromatin/nucleosome.