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Primary immunodeficiency and autoimmunity: A comprehensive review(2019) Amaya-Uribe L.; Rojas M.; Azizi G.; Anaya, Juan-Manuel; Gershwin M.E.The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different components of the innate and adaptive responses. The number of distinct genetic PIDs has increased exponentially with improved methods of detection and advanced laboratory methodology. Patients with PIDs have an increased susceptibility to infectious diseases and non-infectious complications including allergies, malignancies and autoimmune diseases (ADs), the latter being the first manifestation of PIDs in several cases. There are two types of PIDS. Monogenic immunodeficiencies due to mutations in genes involved in immunological tolerance that increase the predisposition to develop autoimmunity including polyautoimmunity, and polygenic immunodeficiencies characterized by a heterogeneous clinical presentation that can be explained by a complex pathophysiology and which may have a multifactorial etiology. The high prevalence of ADs in PIDs demonstrates the intricate relationships between the mechanisms of these two conditions. Defects in central and peripheral tolerance, including mutations in AIRE and T regulatory cells respectively, are thought to be crucial in the development of ADs in these patients. In fact, pathology that leads to PID often also impacts the Treg/Th17 balance that may ease the appearance of a proinflammatory environment, increasing the odds for the development of autoimmunity. Furthermore, the influence of chronic and recurrent infections through molecular mimicry, bystander activation and super antigens activation are supposed to be pivotal for the development of autoimmunity. These multiple mechanisms are associated with diverse clinical subphenotypes that hinders an accurate diagnosis in clinical settings, and in some cases, may delay the selection of suitable pharmacological therapies. Herein, a comprehensively appraisal of the common mechanisms among these conditions, together with clinical pearls for treatment and diagnosis is presented. © 2019 Elsevier Ltd - ÍtemAcceso AbiertoSTAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians(2008) Palomino-Morales, R J; Rojas-Villarraga, A; González, C I; Ramírez, G; Anaya, Juan-Manuel; Martín, JThe aim of this study was to determine the influence of STAT4 (rs7574865) and TRAF1/C5 (rs10818488 and rs2900180) gene polymorphisms on the risk of developing rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Colombian population. This was a case-control study in which 839 individuals with RA (N = 274) and SLE (N = 144) and matched healthy controls (N = 421) were included. Genotyping was performed by using a polymerase chain reaction system with pre-developed TaqMan allelic discrimination assay. STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P = 0.0005; OR 1.62, 95% CI 1.22-2.16) and RA (P = 0.008; OR 1.36; 95% CI 1.08-1.71), whereas no effect on these autoimmune diseases was observed for the TRAF1/C5 polymorphisms examined. Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provide further evidence for a common origin of autoimmune diseases.
ÍtemSolo MetadatosBcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women(2010) Delgado-Vega, A M; Castiblanco, J; Gómez, L M; Diaz-Gallo, L-M; Rojas-Villarraga, A; Anaya, Juan-ManuelObjective: Bcl-2 antagonist killer 1 (BAK1) is a Bcl-2 family proapoptotic member suggested as a candidate gene for autoimmune diseases. The influence of BAK1 polymorphisms on the risk of developing autoimmune rheumatic diseases (AIRDs) in women was investigated. Methods: A total of 719 Colombian women were included in the present study: 209 had systemic lupus erythematosus, 99 primary Sjögren syndrome, 159 rheumatoid arthritis and 252 were healthy matched controls. Tag single nucleotide polymorphisms (SNPs) and potentially functional variants were typed by TaqMan allele discrimination assays. HLA-DRB1 and HLA-DQB1 typing was performed by reverse dot-blot hybridisation and linkage disequilibrium (LD) with BAK1 SNPs was assessed. Results: SNPs rs513349 (odds ratio (OR) 0.57, 95% CI 0.46 to 0.72, p= less than 0.001) and rs5745582 (OR 1.61, 95% CI 1.26 to 2.04, p= less than 0.001) were associated with the AIRDs included in this study. There was a significant increase of the rs513349G-rs561276C-rs5745582A (GCA) haplotype in each patient cohort as compared to controls (OR 1.95, 95% CI 1.50 to 2.54, p= less than 0.001). These SNPs were not in LD with HLA-DRB1 or HLA-DQB1 genes. Conclusions: The results indicate that the BAK1 polymorphisms influence the risk of acquiring AIRDs in the population studied and are consistent with the paradigm that autoimmune diseases are likely to share common susceptibility variants.- ÍtemSolo MetadatosInfluence of STAT4 polymorphism in primary Sjögren's syndrome(2010) Palomino-Morales R.J.; Diaz-Gallo L.-M.; Witte T.; Anaya, Juan-Manuel; Martín J.Objective. To examine the influence of STAT4 rs7574865 gene polymorphism on patients with primary Sjögren's syndrome (SS). Methods. Two different cohorts were studied: 69 patients with primary SS and 296 controls from Colombia and 108 patients with primary SS and 227 controls from Germany. Samples were genotyped for the STAT4 rs7574865 single-nucleotide polymorphism with a predesigned TaqMan single-nucleotide polymorphism genotyping assay. We carried out a metaanalysis of our results combined with data published to date. Results. Although no significant differences were observed in the allele frequencies of STAT4 rs7574865 gene polymorphism between patients and controls in Colombians (p = 0.28, OR 1.24, 95% CI 0.82-1.87) and Germans (p = 0.08, OR 1.40, 95% CI 0.96-2.02), the metaanalysis disclosed a significant effect of the T allele on disease (p = 4.7 = 10-6, OR 1.40, 95% CI 1.21-1.62). Conclusion. These data reinforce the influence of STAT4 gene on primary SS and as a general autoimmune gene. The Journal of Rheumatology Copyright © 2010. All rights reserved.
- ÍtemAcceso AbiertoThe simultaneous presence of IL-1B and TNFA two-positions risk haplotypes enhances the susceptibility for celiac disease(2008) Cherñavsky, Alejandra Claudia; Páez, María Carolina; Periolo, Natalia; Correa, Paula; Guillén, Laura; Niveloni, Sonia Isabel; Mauriño, Eduardo; Bai, Julio César; Anaya, Juan-ManuelTo assess the joint contribution of interleukin 1 beta (IL-1B) and tumor necrosis factor alpha (TNF?) to the genetic risk of developing celiac disease (CD), we analyzed four biallelic polymorphisms of TNFA and IL-1B genes in 228 patients and 244 healthy controls. The individual contribution of TNFA -308A and IL-1B -511C alleles was weak (OR 1.47 and 1.66, respectively) and was null for TNFA -238 A/G and IL-1B +3953 C/T single nucleotide polymorphisms (SNPs). Due to the potential linkage disequilibrium between TNFA, human leukocyte antigen (HLA) -DQA1 and HLA-DQB1 genes, only individuals carrying DQ2 antigen (DQ2-positive) were considered to perform haplotype analyses. Two-position risk haplotypes were first defined by the combined presence of -511C and +3953T alleles for IL-1B (OR 9.402) or -308A and -238A alleles for TNFA (OR 15.389). The TNFA/IL-1B combined haplotype-stratified association analysis showed that the simultaneous presence of TNFA risk and IL-1B non-risk haplotypes (OR 13.32) but not TNFA non-risk and IL-1B risk haplotypes (OR 0.71) is associated with CD. Interestingly, our data suggest that the coexistence of both risk haplotypes seems to work synergistically (OR 29.59), which enhances the risk of developing CD. © 2008 Elsevier Ltd. All rights reserved.
- ÍtemSolo MetadatosAnti-CCP antibodies as a marker of rhupus(2015-02-09) Amaya-Amaya, J; Molano González, Nicolás; Franco, JS; Rodríguez Jiménez, Mónica María del Pilar; Rojas-Villarraga, A; Anaya, Juan-ManuelWe have read with interest the works on rhupus, a clinical condition characterized by the coexistence of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), recently published in Lupus. 1,2 These publications prompted us to investigate the prevalence and characteristics of rhupus in our cohort of patients with SLE,3,4 fulfilling international classification criteria.
- ÍtemAcceso AbiertoNon-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases(2010) Maiti, Amit K.; Kim-Howard, Xana; Viswanathan, Parvathi; Guillén, Laura; Qian, Xiaoxia; Rojas-Villarraga, Adriana; Sun, Celi; Cañas, Carlos; Tobón, Gabriel J.; Matsuda, Koichi; Shen, Nan; Cherñavsky, Alejandra C.; Anaya, Juan-Manuel; Nath, Swapan K.Objectives. Recently, a non-synonymous (Gly307Ser) variant, rs763361, in the CD226 gene was shown to be associated with multiple autoimmune diseases (ADs) in European Caucasian populations. However, shared autoimmunity with CD226 has not been evaluated in non-European populations. The aim of the present study is to assess the association of this single nucleotide polymorphism (SNP) with ADs in non-European populations. Methods. To replicate this association in non-European populations, we evaluated case-control association between rs763361 and coeliac disease (CED) samples from Argentina; SLE, RA, type-1 diabetes (T1D) and primary SS (pSS) from Colombia; and SLE samples from China and Japan. We genotyped rs763361 and evaluated its genetic association with multiple ADs, using ?2-test. For each association, odds ratio (OR) and 95% CI were calculated. Results. We show that rs763361 is significantly associated with Argentinean CED (P = 0.0009, OR= 1.60). We also observed a trend of possible association with Chinese SLE (P = 0.01, OR= 1.19), RA (P = 0.047, OR= 1.25), SLE (P = 0.0899, OR= 1.24) and pSS (P = 0.09, OR= 1.33) in Colombians. Meta-analyses for SLE (using our three populations) and T1D (our population and three published populations) yielded significant association with rs763361, P = 0.009 (OR = 1.16) and P = 1.1.46×10-9 (OR = 1.14), respectively. Conclusions. Our results demonstrate that the coding variant rs763361 in CD226 gene is associated with multiple ADs in non-European populations. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org.
- ÍtemAcceso AbiertoSjögren's syndrome at the crossroad of polyautoimmunity(2012) Amador-Patarroyo, Manuel J.; Arbelaez, Juan Guillermo; Mantilla, Ruben D.; Rodriguez-Rodriguez, Alberto; Cárdenas-Roldán, Jorge; Pineda-Tamayo, Ricardo; Guarin, Mayra R.; Kleine, Liliana Lopez; Rojas-Villarraga, Adriana; Anaya, Juan-ManuelThe coexistence of autoimmune diseases (i.e., polyautoimmunity) in Sjögren's syndrome (SS) was investigated in a cross-sectional study involving 410 patients. Logistic regression analysis and the Rogers and Tanimoto index were used to evaluate risk factors and clustering, respectively. There were 134 (32.6%) patients with polyautoimmunity. The most frequent and closer coexistent diseases were autoimmune thyroid disease (21.5%), rheumatoid arthritis (8.3%), systemic lupus erythematosus (7.6%), and inflammatory bowel disease (0.7%) which together constituted a cluster group. There were 35 (8.5%) patients with multiple autoimmune syndrome. Besides disease duration, a history of habitual smoking and spontaneous abortion were found to be risk factors for the developing of polyautoimmunity. This study discloses a high prevalence of polyautoimmunity in SS, its associated risk factors and the grouping pattern of such a condition. These results may serve to define plausible approaches to study the common mechanisms of autoimmune diseases. © 2012 Elsevier Ltd.
- ÍtemAcceso AbiertoMayaro: an emerging viral threat?(2018) Acosta Ampudia, Yeny Yasbleidy; Monsalve Carmona, Diana Marcela; Rodríguez Velandia, Yhojan Alexis; Pacheco Nieva, Yovana; Anaya, Juan-Manuel; Ramírez Santana, Heily CarolinaMayaro virus (MAYV), an enveloped RNA virus, belongs to the Togaviridae family and Alphavirus genus. This arthropod-borne virus (Arbovirus) is similar to Chikungunya (CHIKV), Dengue (DENV), and Zika virus (ZIKV). The term “ChikDenMaZika syndrome” has been coined for clinically suspected arboviruses, which have arisen as a consequence of the high viral burden, viral co-infection, and co-circulation in South America. In most cases, MAYV disease is nonspecific, mild, and self-limited. Fever, arthralgia, and maculopapular rash are among the most common symptoms described, being largely indistinguishable from those caused by other arboviruses. However, severe manifestations of the infection have been reported, such as chronic polyarthritis, neurological complications, hemorrhage, myocarditis, and even death. Currently, there are no specific commercial tools for the diagnosis of MAYV, and the use of serological methods can be affected by cross-reactivity and the window period. A diagnosis based on clinical and epidemiological data alone is still premature. Therefore, new entomological research is warranted, and new highly specific molecular diagnostic methods should be developed. This comprehensive review is intended to encourage public health authorities and scientific communities to actively work on diagnosing, preventing, and treating MAYV infection. © 2018, The Author(s).
- ÍtemSolo MetadatosGender differences in latin-american patients with rheumatoid arthritis(2012) Barragán-Martínez, Carolina; Amaya-Amaya, Jenny; Pineda-Tamayo, Ricardo; Mantilla, Rubén D.; la Hoz, Juan Castellanos-de; Bernal-Macías, Santiago; Rojas-Villarraga, Adriana; Anaya, Juan-ManuelBackground: Data on the effect of gender in rheumatoid arthritis (RA) in non-Caucasian populations is scarce. Latin America and the Caribbean (LAC) is a large population with unique characteristics, including high admixture. Objective: Our aim was to examine the effect of gender in patients with RA in LAC. Methods: This was a 2-phase study. First we conducted a cross-sectional and analytical study in which 1128 consecutive Colombian patients with RA were assessed. Second, a systematic review of the literature was done to evaluate the effect of gender in LAC patients with RA. Results: Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man. Colombian women with RA are more at risk of having an early age at onset and developing polyautoimmunity and abdominal obesity, and they perform more household duties than their male counterparts. However, male gender was associated with the presence of extra-articular manifestations. Of a total of 641 potentially relevant articles, 38 were considered for final analysis, in which several factors and outcomes related to gender were identified. Conclusions: RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis observed in women with RA in LAC. © 2012 Elsevier HS Journals, Inc.
