Primary <scp>S</scp>jögren's syndrome in monozygotic twins

Lee, Wonseok; Yoo, Wan‐Hee

doi:10.1111/1756-185x.12398

Cited by 7 publications

(2 citation statements)

References 6 publications

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“…18 Additionally, there are multiple case reports of monozygotic twins with SjD, but with no reliable concordance rates to date. 16,[19][20][21] Those with genetic susceptibility, when environmentally triggered such as by viral infections, may develop the disease through persistent activation of immune cells. Lymphocytes are central to this immunopathogenesis, with affected organs exhibiting lymphoproliferative activity and infiltration.…”

Section: Pathogenesismentioning

confidence: 99%

Pulmonary Manifestations of Sjögren's Disease

Byrne,

McCarthy,

Fabre

et al. 2024

Semin Respir Crit Care Med

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Sjögren's disease (SjD) is a chronic, progressive autoimmune condition of exocrine and extraglandular tissues. It can present with isolated disease characterized by lymphocytic infiltration of salivary or lacrimal glands, but in approximately one-third of the patients, lymphocytic infiltration extends beyond exocrine glands to involve extraglandular organs such as the lungs. Pulmonary complications have been reported to occur between 9 and 27% of patients with SjD across studies. Respiratory manifestations occur on a spectrum of severity and include airways disease, interstitial lung disease, cystic lung disease, and lymphoma. Lung involvement can greatly affect patients' quality of life, has a major impact on the overall prognosis, and frequently leads to alteration in the treatment plans, highlighting the importance of maintaining a high index of clinical suspicion and taking appropriate steps to facilitate early recognition and intervention.

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Section: Pathogenesismentioning

confidence: 99%

Pulmonary Manifestations of Sjögren's Disease

Byrne,

McCarthy,

Fabre

et al. 2024

Semin Respir Crit Care Med

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“…Several lines of evidence confirm the role of genetic predisposition in the development of pSS. For example, compared with the general population, the occurrence of pSS is higher among siblings of patients with pSS, the familial incidence of other autoimmune conditions is also higher 20 and a few existing reports indicate increased co-occurrence of pSS in twins [21][22][23][24] , although estimates of twin concordance rates are still lacking. Knowledge on the genetics of pSS is building, but the number of publications from genetic studies remains low compared with other autoimmune diseases (such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and multiple sclerosis) (Fig.…”

Section: Genetic Studies In Pssmentioning

confidence: 99%

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

2023

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In primary Sjögren syndrome (pSS), chronic inflammation of exocrine glands results in tissue destruction and sicca symptoms, primarily of the mouth and eyes. Fatigue, arthralgia and myalgia are also common symptoms, whereas extraglandular manifestations that involve the respiratory, nervous and vascular systems occur in a subset of patients. The disease predominantly affects women, with an estimated female to male ratio of 14 to 1. The aetiology of pSS, however, remains incompletely understood, and effective treatment is lacking. Largescale genetic and epigenetic investigations have revealed associations between pSS and genes in both innate and adaptive immune pathways. The genetic variants mediate context-dependent effects, and both sex and environmental factors can influence the outcome. As such, genetic and epigenetic studies can provide insight into the dysregulated molecular mechanisms, which in turn might reveal new therapeutic possibilities. This Review discusses the genetic and epigenetic features that have been robustly connected with pSS, putting them into the context of cellular function, carrier sex and environmental challenges. In all, the observations point to several novel opportunities for early detection, treatment development and the pathway towards personalized medicine. Key points• Advances in the past few years provide new insight into the genetic and epigenetic basis of primary Sjögren syndrome (pSS), and how environmental factors and carrier sex might interact with risk-associated loci.• Immunomodulatory treatments that affect disease progression and activity have not been identified for pSS and remain unmet clinical needs.• Data from genetic and epigenetic studies point to Toll-like receptor and interferon signalling, lymphocyte regulation, antigen presentation and target tissue maintenance as the most relevant processes for therapeutic targeting.• Of the implicated pathogenic processes, Toll-like receptor and interferon signalling, as well as lymphocyte regulation, contain targets of various treatments in development or in clinical trials.• Novel treatment approaches for pSS could include modification of epigenetic signatures, interference with antigen presentation pathways and antigen-specific immunotherapy.Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author selfarchiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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