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  • Characterization of Damage in Portuguese Lupus Patients
    Publication . Moraes-Fontes, MF; Riso, N
    2015Other Open access Show more
  • 2016-06-16Journal article Open access Show more
  • Erythema Annulare Centrifugum During Rituximab Treatment for Autoimmune Haemolytic Anaemia
    Publication . Mendes-Bastos, P; Coelho-Macias, V; Moraes-Fontes, MF; Milheiro, A; Rodrigues, AM; Cardoso, J
    2014-08Journal article Open access Show more
  • Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo Mutation
    Publication . Moraes-Fontes, MF; Hsu, AP; Caramalho, I; Martins, C; Araújo, AC; Lourenço, F; Taulaigo, AV; Lladó, A; Holland, SM; Uzel, G
    Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
    2017-12Journal article Open access Show more
  • Fatores Determinantes de Morbilidade nos Doentes com Lúpus Eritematoso Sistémico
    Publication . Jacinto, M; Silva, E; Riso, N; Moraes-Fontes, MF
    Introdução: O lúpus eritematoso sistémico pode apresentar uma gravidade variável. Contudo, não existem biomarcadores que preveem o curso da doença. O dano é medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index que define a gravidade e prevê o seu prognóstico. Objetivo: Avaliação dos fatores que determinam dano nos doentes com lúpus eritematoso sistémico. Material e Métodos: Estudo retrospetivo, monocêntrico, em doentes com lúpus eritematoso sistémico (≥ 4 critérios do American College of Rheumatology – 100% dos doentes, n = 76), do sexo feminino, seguidos por um período ≥ 5 anos. Início da doença, etnia, duração, número de critérios American College of Rheumatology no final do seguimento, fenótipo renal, neuropsiquiátrico (e articular, co-morbilidades e Systemic Lupus Erythematosus Disease Activity Index -2K foram correlacionados com a presença e grau de dano medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index. A acumulação de critérios American College of Rheumatology foi objetivada num sub-grupo de doentes seguidos desde o início. A análise estatística utilizou o qui-quadrado, Wilcoxon Mann-Whitney e a correlação de Spearman (p < 0,05). Resultados: O Systemic Lupus International Collaborating Clinics Index era superior a 0 em 56,5% dos doentes. Estes doentes tinham um maior tempo de doença, um maior número de critérios American College of Rheumatology e um fenótipo neuropsiquiátrico, quando comparados com doentes sem dano (p < 0,05). Verificou-se uma correlação positiva entre o valor numérico de critérios American College of Rheumatology acumulados no final do seguimento e a atividade da doença nos últimos cinco anos (Spearman rho 0,02 e p < 0,05). Não se verificaram diferenças em relação às outras variáveis. Discussão e Conclusão: A duração da doença e o número de critérios do American College of Rheumatology acumulados conseguem prever a presença de dano. A doença neuropsiquiátrica teve impacto na morbilidade dos doentes com lúpus eritematoso sistémico, identificando um subgrupo em risco.
    2017-05Journal article Open access Show more
  • Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease Susceptibility
    Publication . Xavier, J; Krug, T; Davatchi, F; Shahram, F; Fonseca, B; Jesus, G; Barcelos, F; Vedes, J; Salgado, M; Abdollahi, B; Nadji, A; Moraes-Fontes, MF; Shafiee, N; Ghaderibarmi, F; Patto, J; Crespo, J; Oliveira, S
    Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.
    2013Journal article Open access Show more
  • Heterogeneous lupus-specific lesions and treatment outcome, in a single patient, over a period of time
    Publication . Fernandes, M; Taulaigo, AV; Vidal, C; Agostini, P; Riso, N; Moraes-Fontes, MF
    The report highlights the importance of strict clinico-histological correlations when skin biopsies are performed in diagnostic doubt in systemic lupus erythematosus. Furthermore, PUVA is never indicated in autoimmune conditions involving photosensitivity, due to high potential for internal and cutaneous aggravation of the disease, as the authors observed in this case.
    2019-05Journal article Open access Show more
  • Idiopathic Inflammatory Myopathies: State of the Art on Clinical Practice Guidelines [corrected]
    Publication . Meyer, A; Scirè, CA; Talarico, R; Alexander, T; Amoura, Z; Avcin, T; Barsotti, S; Beretta, L; Blagojevic, J; Burmester, G; Cavazzana, I; Cherrin, P; Damian, L; Doria, A; Fonseca, JE; Furini, F; Galetti, I; Houssiau, F; Krieg, T; Maddalena, L; Launay, D; Campanilho-Marques, R; Martin, T; Matucci-Cerinic, M; Moinzadeh, P; Montecucco, C; Moraes-Fontes, MF; Mouthon, L; Neri, R; Paolino, S; Piette, Y; Rednic, S; Tamirou, F; Tincani, A; Toplak, N; Bombardieri, S; Hachulla, E; Mueller-Ladner, U; Schneider, M; Smith, V; Vieira, A; Cutolo, M; Mosca, M; Cavagna, L
    Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ' and clinicians' unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union's Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ' preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.
    2018Journal article Open access Show more
  • IL10 Low-Frequency Variants in Behçet's Disease Patients
    Publication . Matos, M; Xavier, JM; Abrantes, P; Sousa, I; Rei, N; Davatchi, F; Shahram, F; Jesus, G; Barcelos, F; Vedes, J; Salgado, Manuel; Abdollahi, B; Nadji, A; Moraes-Fontes, MF; Shafiee, N; Ghaderibarmi, F; Vaz Patto, J; Crespo, J; Oliveira, SA
    To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility.
    2014-04-08Journal article Open access Show more
  • Immunodeficiency and Autoimmunity Coming Together: a Nearly Missed Diagnosis
    Publication . Carreiro, F; Betkova, S; Sepúlveda, C; Manata, MJ; Cardoso, O; Maltez, F; Moraes-Fontes, MF
    The coexistence of human immunodeficiency virus (HIV) and systemic lupus erythematosus (SLE) appears to be unusual and the prevalence of patients who carry the dual diagnosis is currently unknown. We hereby present a case of a C4 deficient HIV-1 positive Caucasian female under highly active antiretroviral therapy for the past eight years, admitted to hospital with an aggressive and potentially fatal clinical presentation of SLE. There was a favorable outcome despite a significant diagnostic delay. Despite its rarity, the case highlights that this association is remarkable and may be overlooked by clinicians familiar with either condition.
    2017Journal article Open access Show more