MAGDA MARIA SALES CARNEIRO SAMPAIO

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Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder

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Assunto: Rheumatology ×

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  • article 94 Citação(ões) na Scopus
    A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil
    (2011) JESUS, Adriana A.; OSMAN, Mazen; SILVA, Clovis A.; KIM, Peter W.; Tuyet-Hang Pham; GADINA, Massimo; YANG, Barbara; BERTOLA, Debora R.; CARNEIRO-SAMPAIO, Magda; FERGUSON, Polly J.; RENSHAW, Blair R.; SCHOOLEY, Ken; BROWN, Michael; AL-DOSARI, Asma; AL-ALAMI, Jamil; SIMS, John E.; GOLDBACH-MANSKY, Raphaela; EL-SHANTI, Hatem
    Objective Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem inflammatory disease, Majeed syndrome, and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. This study was undertaken to present the characteristics of the DIRA syndrome in 2 cases from Brazil, and describe a novel mutation in IL1RN. Methods. Two unrelated Brazilian patients were evaluated for the clinical signs and symptoms of these 3 disorders, and peripheral blood samples were assessed for mutations in NLRP3, LPIN2, and IL1RN by DNA resequencing analysis. A mutation in IL1RN that encodes a mutant protein was identified, and the expression and function of this mutant protein were compared to those of the wild-type protein. Results. Both patients presented with pustular dermatitis resembling generalized pustular psoriasis, recurrent multifocal aseptic osteomyelitis, and elevation in the levels of acute-phase reactants, all of which are features most consistent with the DIRA syndrome. Chronic lung disease was observed in 1 of the patients, and jugular venous thrombosis was observed in the other patient. Both patients showed a partial response to corticosteroid therapy, and 1 patient experienced an initial improvement of dermatitis with the use of acitretin. Both patients were homozygous for a novel 15-bp (in-frame) deletion on the IL1RN gene. The mutated protein expressed in vitro had no affinity with the IL-1 receptor, and stimulation of the patients' cells with recombinant human IL-1 alpha or IL-1 alpha led to oversecretion of proinflammatory cytokines, similar to the findings obtained in previously reported patients. Conclusion. The presence of the same homozygous novel mutation in IL1RN in 2 unrelated Brazilian patients suggests that this genetic variant may be a founder mutation that has been introduced in the Brazilian population.
  • 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.
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    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 9 Citação(ões) na Scopus
    Mild and moderate Mannose Binding Lectin deficiency are associated with systemic lupus erythematosus and lupus nephritis in Brazilian patients
    (2016) PERAZZIO, Sandro Felix; SILVA, Neusa Pereira da; CARNEIRO-SAMPAIO, Magda; ANDRADE, Luis Eduardo Coelho
    Objective: The potential association of mannose binding lectin (MBL) deficiency and systemic lupus erythematosus (SLE) has been investigated in several studies, but results have been mixed. One explanation for the conflicting results could be differences in ethnic background of study subjects. In this study we investigated the association of MBL deficiency and SLE in a large cohort of Brazilian SLE patients and controls. Methods: Serum MBL and Complement levels were determined for 286 Brazilian adult SLE patients and 301 healthy Brazilian adults as controls. MBL deficiency was classified as mild (<1000 and >= 500 mu g/4 moderate (<500 and > 100 mu g/L) or severe (<100 mu g/L). Results: SLE patients presented higher frequency of mild and moderate MBL deficiency compared to controls. SLE patients with MBL deficiency presented higher frequency of lupus nephritis compared to those without MBL deficiency. MBL deficiency was not associated with any other clinical manifestation, use of immunosuppressant therapy, disease activity, disease severity serum or Complement levels. Conclusion: This study shows that an association between MBL deficiency and SLE does exist in the Brazilian population. We also found an association between MBL deficiency and lupus nephritis. These findings support the hypothesis that MBL deficiency contributes to the development of SLE and lupus nephritis.
  • conferenceObject
    Serial Screening Shows That 28% of Systemic Lupus Erythematosus Adult Patients Carry an Underlying Primary Immunodeficiency
    (2012) PERAZZIO, Sandro F.; SALOMAO, Reinaldo; SILVA, Neusa P.; CARNEIRO-SAMPAIO, Magda; ANDRADE, Luis Eduardo C.
    Background/Purpose: Systemic Lupus Erythematosus (SLE) is known to be associated with deficiency of C1q, C4, and C2. There is high frequency of discoid lesions (2.7%) and SLE (0.5%) in Chronic Granulomatous Disease (CGD). Selective IgA Deficiency (SIgAD) has been associated with juvenile (5.2%) and adult (2.6%) SLE. About 25% of patients with Common Variable Immunodeficiency (CVID) develop autoimmune manifestation, including SLE. Although there are reports of individual primary immunodeficiency (PID) in SLE, there is no systematic study estimating the fraction of SLE adult patients presenting any form of PID. This study aimed to estimate the prevalence of overall PID in a cohort of SLE patients and healthy controls, and to compare the clinical characteristics of the SLE patients with and without PID. Methods: 300 SLE patients (ACR criteria) and 301 controls (blood donors) underwent clinical examination and were evaluated for total hemolytic complement (CH50), C2, C3, C4A and C4B gene copy number, immunoglobulin isotypes and IgG subclasses, as well as quantification of the oxidative burst in neutrophils. Patients who presented any laboratory indication of PID underwent a novel examination after 60 days for confirmation. Patients with active disease and abnormal results were followed and underwent novel tests after the end of the flare or excluded if no remission was attained up to the end of the study. Cases with low C2 serum levels underwent C2 gene analysis by PCR for confirmation. Those who presented altered unexplained CH50 underwent C1q determination. Those with C4A and/or C4B low copy number had C4 serum levels determined. Diagnosis of PID was established according to “2009 International Union of Immunological Societies Expert Committee on PID”. Results: There were 84 SLE patients (28%) and 10 controls (3.33%) with established diagnosis of PID (p<0.001). SLE patients had a significantly (p=0.01) higher frequency of IgG2 deficiency (n=37; 12.3%), IgG3 deficiency (n 24; 8%), IgG4 deficiency (n=11; 3.6%), and IgM Deficiency (n=24; 8%) as compared to HC (0.3%, 0%, 0%, and 1.6%, respectively). One female patient presented neutrophil oxidative burst profile compatible with CGD gene carrier status (0.33%). There were no cases of C2, C3, C4 or C1q deficiency, CVID, CGD, Hyper-IgM and Hyper-IgE syndromes. Patients with IgG3 or IgG4 deficiency presented higher frequency of lupus nephropathy and those with IgM deficiency presented higher prevalence of oral ulcers. Overall PID was not associated with most SLE clinical manifestations, infection rate, immunosuppressant use, age at disease onset, disease duration, comorbidity, SLEDAI and SLICC-DI. Conclusion: Over one quarter of SLE patients presented some form of PID, largely represented by immunoglobulin deficiency. Due to the important role of immunoglobulins in the clearance of immunocomplex, apoptotic bodies and pathogens, low levels of these components might induce a state of frequent and persistent immunological stimulation, which may foster autoimmunity development in genetically predisposed individuals. Our results suggest that an underlying immunodeficiency state may be involved in the disease pathophysiology in a substantial fraction of SLE patients.
  • article 12 Citação(ões) na Scopus
    High frequency of immunodeficiency-like states in systemic lupus erythematosus: a cross-sectional study in 300 consecutive patients
    (2016) PERAZZIO, Sandro F.; GRANADOS, Atila; SALOMAO, Reinaldo; SILVA, Neusa P.; CARNEIRO-SAMPAIO, Magda; ANDRADE, Luis Eduardo C.
    Objective. To determine the frequency of immunodeficiency-like states in SLE and related clinical features. Methods. Three hundred and fifteen SLE patients and 301 controls were evaluated for C4A and C4B gene copy number, immunoglobulin isotypes, IgG subclasses, total haemolytic complement (CH50), C2, C3 and neutrophil oxidative burst. C2 and C3 genes were sequenced in cases of low C2 or C3 levels. Those presenting abnormal CH50 with normal C2 and C3 underwent C1q-C9 determination. Patients with active SLE and abnormal results were re-tested after the flare or were excluded if no remission was attained. Fifteen patients were excluded on this basis. Persistent abnormal results characterized an immunodeficiency-like state. Results. A significantly higher percentage of SLE patients presented an immunodeficiency-like state compared with controls (28.7% vs 3.3%; P < 0.001), especially low immunoglobulin serum levels. Rigorous testing confirmed only two cases of C2 deficiency carriers among the SLE patients. There were significantly more SLE patients with less than two C4A copies compared with controls. SLE patients had higher frequency of low IgG(2), IgG(3), IgG(4) and IgM levels compared with controls. Patients with low IgG(3) or IgG(4) presented higher frequency of lupus nephropathy. Patients with low IgM had longer disease duration, older age at SLE onset and lower frequency of oral ulcers. Conclusion. An immunodeficiency-like state is present in a sizable fraction of SLE patients. Further studies are warranted to determine the impact of these immunodeficiency states and whether they are a primary condition or are secondary to confounding factors, including SLE itself.
  • article 52 Citação(ões) na Scopus
    Features of 847 Childhood-Onset Systemic Lupus Erythematosus Patients in Three Age Groups at Diagnosis: A Brazilian Multicenter Study
    (2016) GOMES, Roberta C.; SILVA, Marco F.; KOZU, Katia; BONFA, Eloisa; PEREIRA, Rosa M.; TERRERI, Maria T.; MAGALHAES, Claudia S.; SACCHETTI, Silvana B.; MARINI, Roberto; FRAGA, Melissa; CARVALHO, Luciana M.; BARBOSA, Cassia M.; CARNEIRO-SAMPAIO, Magda; SILVA, Clovis A.
    ObjectiveTo evaluate demographic data and clinical and laboratory features at disease diagnosis in 3 different age groups of childhood-onset systemic lupus erythematosus (SLE): group A, early-onset (<6 years); group B, school age (6 to <12 years); and group C, adolescent (12 to <18 years). MethodsThis was a Brazilian multicenter cohort retrospective study in 10 pediatric rheumatology centers, including 847 childhood-onset SLE patients. ResultsPatients were divided into 3 groups: group A with 39 patients (4%), group B with 395 patients (47%), and group C with 413 patients (49%). Of 39 childhood-onset SLE patients in group A, 3 (8%) were ages <2 years, 4 (10%) were 2 to <3 years, and 32 (82%) were 3 and <6 years. A total of 74 childhood-onset SLE patients were analyzed for C1q levels, and complete C1q deficiency was observed in 3 of 74 patients (4%), all in group A. Groups were similar regarding high frequencies of female sex, nephritis, neuropsychiatric involvement, Systemic Lupus Erythematosus Disease Activity Index 2000 score 8, autoantibody profile, elevated acute phase proteins, and low complement levels (P>0.05). However, the frequency of fever (78% versus 61% versus 47%; P<0.0001), hepatomegaly (42% versus 29% versus 14%; P<0.0001), splenomegaly (28% versus 12% versus 4%; P<0.0001), and discoid lupus (13% versus 4% versus 4%; P=0.020) was significantly higher in group A compared to groups B and C. The frequency of weight loss >2 kg (19% versus 28% versus 36%; P=0.017), photosensitivity (34% versus 41% versus 51%; P=0.006), leukopenia <4,000/mm(3) (14% versus 25% versus 30%; P=0.048), and lymphopenia <1,500/mm(3) (22% versus 41% versus 47%; P=0.011) was significantly lower in group A. ConclusionOur large multicenter study identified the finding that the initial appearance of childhood-onset SLE is characterized by comparable high frequency of internal organ involvement and some distinct clinical and laboratory features in early-onset and adolescent groups.
  • 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 12 Citação(ões) na Scopus
    The new 2019-EULAR/ACR classification criteria specific domains at diagnosis can predict damage accrual in 670 childhood-onset systemic lupus erythematosus patients
    (2021) PITTA, Ana C.; SILVA, Clovis A.; INSFRAN, Carlos E.; PASOTO, Sandra G.; TRINDADE, Vitor C.; V, Glaucia Novak; SAKAMOTO, Ana P.; TERRERI, Maria T.; PEREIRA, Rosa M. R.; MAGALHAES, Claudia S.; FONSECA, Adriana R.; ISLABAO, Aline G.; ASSAD, Ana P. L.; BUSCATTI, Izabel M.; ELIAS, Adriana M.; PIOTTO, Daniela P.; FERRIANI, Virginia P.; CARVALHO, Luciana M.; RABELO JUNIOR, Carlos N.; MARINI, Roberto; SZTAJNBOK, Flavio R.; SACCHETTI, Silvana B.; BICA, Blanca E.; MORAES, Ana J.; ROBAZZI, Teresa C.; LOTUFO, Simone; CAVALCANTI, Andre S.; NAKA, Erica N.; CARNEIRO-SAMPAIO, Magda; BONFA, Eloisa; AIKAWA, Nadia E.
    Objective To evaluate if the 2019-European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) criteria at diagnosis of childhood-onset systemic lupus erythematosus (cSLE) are associated with higher rates of early damage scored by Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index (SDI). Methods This retrospective multicenter study included 670 cSLE patients with <= 5 years of disease duration. All patients fulfilled both 2019-EULAR/ACR and 1997-ACR classification criteria. Total score of 2019-EULAR/ACR criteria and each of its specific domains were assessed at diagnosis as predictors of damage accrual at the last visit, according to the presence of any organ damage (defined by SDI >= 1). Results Median disease duration was 2.8 (IQR 1.8-3.8) years and 200 (29.9%) patients had at least one organ damage (SDI >= 1). The most frequent domains were neuropsychiatric (12%), renal (7%), and musculoskeletal (6%). There was a higher frequency of renal (58% vs 43%, p = 0.0004) and neuropsychiatric domain (21% vs 7%, p < 0.0001) of 2019-EULAR/ACR criteria in patients with damage (SDI >= 1) compared to those without damage (SDI = 0). Patients scoring renal or neuropsychiatric domains of the 2019-EULAR/ACR criteria at diagnosis were associated with renal damage (odds ratio 9.701, 95% confidence interval 3.773-24.941, p < 0.001) or neuropsychiatric damage (OR 9.480, 95% CI 5.481-16.399, p<0.0001) at latest visit, respectively. cSLE patients with positive anti-dsDNA at diagnosis were also associated with renal damage by the latest visit (OR 2.438, 95% CI 1.114-5.3381, p = 0.021). Constitutional, hematologic, mucocutaneous, serosal, and musculoskeletal domains and specific criteria as well as other immunologic criteria were not associated with damage accrual. Median of SLEDAI-2K was significantly higher in patients with global damage (19.5 (2-51) vs 14 (0-51), p<0.001). 2019-EULAR/ACR score >25 was associated with more overall (SDI >= 1) (38% vs 25%, p = 0.0002) and renal damage (11% vs 5%, p = 0.023). Conclusions The 2019-EULAR/ACR criteria at diagnosis were associated with a higher rate of early damage in cSLE patients, especially for renal and neuropsychiatric damage. Of note, damage was particularly associated with high disease activity at diagnosis and 2019-EULAR/ACR score >25.
  • 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