The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients

Su, Maureen A.; Stenerson, Matthew; Liu, Weihong; Putnam, Amy; Conte, Felix A.; Bluestone, Jeffrey A.; Anderson, Mark S.

doi:10.1016/j.clim.2008.11.007

Cited by 38 publications

(38 citation statements)

References 22 publications

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“…Results of many of these researches have shown the altered numbers and/or function of FoxP3+ regulatory cells compared to healthy individuals [21][22][23]. Likewise, several studies have published regarding to the phenotype and function of Tregs in patients with SLE; however, literature shows massive controversies.…”

Section: Discussionmentioning

confidence: 99%

Quantification of regulatory T cells in peripheral blood of patients with systemic lupus erythematosus

Habibagahi

Jaberipour

et al. 2010

Rheumatol Int

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Regulatory T cells (Tregs) are supposed to stop immune responses in the course of immune activation. However, chronic activation of immune system in systemic lupus erythematosus (SLE) and many other autoreactive disorders are evidence of malfunction of this system. Therefore, it is plausible to quantify presence of these cells in different diseases. Forty-one patients with diagnosis of SLE were enrolled in this study. Patients were divided into two groups of patients with active and inactive disease based on the disease activity score. Flow cytometry analysis was used to determine the frequency of regulatory T cells in peripheral blood according to high expression of CD25 and intracellular Forkhead/winged-helix (Foxp3). Further 30 healthy individuals considered as control group. Significantly less CD4+CD25hi regulatory T cells were detected in active patients (P < 0.001) compared to healthy individuals. The percentage of CD4+CD25hi cells were inversely correlated with the SLEDAI disease score in patients with active disease (r = -0.837, P < 0.0001). Patients with active disease had lower frequencies of CD4+Foxp3+ cells. However, increased frequencies of CD4+Foxp3+ T cells were observed in peripheral blood of patients with inactive disease compared with active patients or healthy individuals (P < 0.010). Moreover, a significant difference between the proportion of CD4+CD25-Foxp3+ population in healthy controls and patients with active disease was shown (P < 0.0005). Presence of lower frequencies of Tregs in patients with SLE could be evaluated as an immune turbulence and could be employed as a target for immunotherapeutic manipulation. However, controversies need to be resolved.

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Section: Discussionmentioning

confidence: 99%

Quantification of regulatory T cells in peripheral blood of patients with systemic lupus erythematosus

Habibagahi

Jaberipour

et al. 2010

Rheumatol Int

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“…While the genetic basis for the predisposition is not known, there is a decrease in the CD4-CD8 lymphocyte ratio, suggesting an immune alteration that may predispose to autoimmunity (357). The frequency of Addison disease and type I or II autoimmune polyglandular syndrome seems not increased (358).…”

Section: Autoimmunitymentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

866

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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“…This has been demonstrated by various studies such as the studies of autoimmune phenomena in female carriers of X-CGD described previously [28,30], as well as in recent studies of FOXP3 selective activation in CD4 + CD25 hi Tregs of healthy female carriers of different FOXP3 mutations [57]. Another approach has used the X chromosome monosomy seen in Turner's syndrome to study the role of X-linked FOXP3 in the autoimmune susceptibility [58].…”

Section: Discussionmentioning

confidence: 96%

The Relationship of X-Linked Primary Immune Deficiencies and Autoimmunity

Pessach

2010

Curr Allergy Asthma Rep

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It is well-known that autoimmunity is significantly more prevalent in females. Growing evidence indicates that genes located on the X chromosome may play a role in autoimmunity and immune dysregulation, as also indicated by the frequent association of autoimmune phenomena in patients with X-linked primary immune deficiencies (PIDs). Hence, this group of genetic disorders is of particular interest to study PID-causing genes in the setting of more complex autoimmune disorders. This review focuses on the mechanisms leading to the autoimmune phenomena that are associated with the different X-linked PIDs, and on the intriguing interplay between immune dysregulation and immune deficiency in this unique setting.

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The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients

Cited by 38 publications

References 22 publications

Quantification of regulatory T cells in peripheral blood of patients with systemic lupus erythematosus

Quantification of regulatory T cells in peripheral blood of patients with systemic lupus erythematosus

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

The Relationship of X-Linked Primary Immune Deficiencies and Autoimmunity

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