Polyautoimmunity and familial autoimmunity in systemic sclerosis

Hudson, Marie; Rojas-Villarraga, Adriana; Coral-Alvarado, Paola; López-Guzmán, Silvia; Mantilla, Rubén D.; Chalem, Philippe; Baron, Murray; Anaya, Juan Manuel

doi:10.1016/j.jaut.2008.05.002

Cited by 104 publications

(62 citation statements)

References 27 publications

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“…Similarly, in a recent study, female gender and familial autoimmunity were also determined as the risk factors associated with PAI [11]. Hudson et al [16] studied on 719 patients with systemic sclerosis and reported that family history of an AID was a significant predictor of PAI in those patients. Similarly, familial autoimmunity was defined as a risk factor for PAI in SLE; and type 1 DM patients [17].…”

Section: Discussionmentioning

confidence: 98%

Risk Factors for Polyautoimmunity among Patients with Celiac Disease: A Cross-Sectional Survey

et al. 2015

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Aim: To define the prevalence of polyautoimmunity (PAI) among celiac disease (CD) patients and to compare clinical and laboratory features of CD patients with or without PAI in order to determine the risk factors for PAI in CD. Material and Method: Patients diagnosed with CD in our clinic between 2007 and 2014 with at least 1 year of follow-up were retrospectively evaluated. Totally 145 patients were included in the study. Information on patient demographics and laboratory data were obtained from patient records. The study participants were divided into 2 groups. Group 1 was the CD-alone group consisting of patients without any other autoimmune diseases (AIDs), while group 2 was the PAI group consisting of patients with accompanying one or more AIDs. Results: The mean age of 145 CD patients (106 female and 39 male) included in the study was 37.2 ± 12.3 years. Of the 145 patients included, 48 (33.1%) were in the PAI group. When two groups were compared with each other in terms of the demographic features and laboratory data, the following were identified as risk factors for PAI: female gender, family history for AIDs, antigliadin IgG positivity, vitamin D deficiency, antinuclear antibody positivity ≥1/80 titer and having any musculoskeletal disease. Conclusion: To the best of our knowledge, this is one of the largest studies in the literature on CD patients for the PAI prevalence and related risk factors. Identification of the risk factors in early stages is important to explore PAI among CD patients. Larger, prospective studies are warranted about the risk factors and autoimmune characteristics of CD.

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Section: Discussionmentioning

confidence: 98%

Risk Factors for Polyautoimmunity among Patients with Celiac Disease: A Cross-Sectional Survey

et al. 2015

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“…Approximately 20-30% of SSc patients develop at least one additional AID (Caramaschi et al 2007;Hudson et al 2008;Avouac et al 2010), what could inXate the association of SSc with common AID risk loci. Hence, controlling for the eVect of the combination of particular AIDs with SSc might reveal unique SSc genetic risk factors.…”

Section: Phenotypic Characterizationmentioning

confidence: 99%

Unraveling the genetic component of systemic sclerosis

2012

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Systemic sclerosis (SSc) is a severe connective tissue disorder characterized by extensive fibrosis, vascular damage, and autoimmune events. During the last years, the number of genetic markers convincingly associated with SSc has exponentially increased. In this report, we aim to offer an updated review of the classical and novel genetic associations with SSc, analyzing the firmest and replicated signals within HLA and non-HLA genes, identified by both candidate gene and genome-wide association (GWA) studies. We will also provide an insight into the future perspectives and approaches that might shed more light into the complex genetic background underlying SSc. In spite of the remarkable advance in the field of SSc genetics during the last decade, the use of the new genetic technologies such as next generation sequencing (NGS), as well as the deep phenotyping of the study cohorts, to fully characterize the genetic component of this disease is imperative.

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“…The epidemiology of MAS in autoimmune diseases [28,29,30] remains an open question in many cases. To date, the syndrome has been best studied in sJIAs, with estimates of clinically apparent MAS ranging from 7 to 13% [24,31].…”

Section: Case Definition and Epidemiologymentioning

confidence: 99%

Macrophage Activation Syndrome in Autoimmune Disease

Deane

Selmi

Teuber

et al. 2010

Int Arch Allergy Immunol

110

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Macrophage activation syndrome (MAS) is a phenomenon characterized by cytopenia, organ dysfunction, and coagulopathy associated with an inappropriate activation of macrophages. Current diagnostic criteria are imprecise, but the syndrome is now recognized as a form of hemophagocytic lymphohistiocytosis that is characteristically associated with autoimmune diatheses. The diagnosis of incipient MAS in patients with autoimmune disease requires a high index of suspicion, as several characteristics of the disorder may be present in the underlying condition or infectious complications associated with the treatment thereof. Proposed treatment regimens include aggressive approaches that require validation in future controlled studies. This review discusses the major aspects of the pathophysiology, diagnosis, and management of MAS with a focus on the association with autoimmune disease.

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Polyautoimmunity and familial autoimmunity in systemic sclerosis

Cited by 104 publications

References 27 publications

Risk Factors for Polyautoimmunity among Patients with Celiac Disease: A Cross-Sectional Survey

Risk Factors for Polyautoimmunity among Patients with Celiac Disease: A Cross-Sectional Survey

Unraveling the genetic component of systemic sclerosis

Macrophage Activation Syndrome in Autoimmune Disease

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