Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, <i>Haemophilus influenzae</i> type B and <i>Streptococcus Pneumoniae</i>

Swee, Du Soon; Spickett, Gavin P; Quinton, Richard

doi:10.1111/cen.13978

Cited by 4 publications

(6 citation statements)

References 11 publications

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“…8 of the 11 genes that enriched in immune response were downregulated, indicating that the immune response was significantly inhibited in Xp TS patients. This result was to some extent consistent with the findings of Swee DS ( 20 ), which displayed that 69% of 114 consecutive adults with TS reported low baseline Antibody levels, and 20% of these patients reported persistent low antibody levels after immunization. KEGG analysis results revealed that DEIRGs in Xm TS patients were significantly involved in Pathways in cancer.…”

Section: Discussionsupporting

confidence: 91%

“…In another study, the prevalence of antiGAD-65 antibody in diabetes in TS was slightly higher than that of the general population (4%vs.1.1%) ( 19 ). Nevertheless, a recent study reported that Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae Type B and Streptococcus Pneumoniae ( 20 ).…”

Section: Introductionmentioning

confidence: 99%

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Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins

Wang²,

Yu³

et al. 2023

Front. Endocrinol.

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IntroductionTurner syndrome (TS) is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations. However, the immunological profile of TS with different X chromosome origins is incompletely understood.MethodsIn this study, transcriptomic expression profiles of 26 TS (45,X) samples and 10 normal karyotype (46,XX) samples derived from GSE46687 cohort were employed. Differentially expressed immune-related genes (DEIRGs) between monosomy X TS patients with different X chromosome origins and normal females were investigated respectively. Subsequently, functional annotation, protein-protein interaction (PPI) network analysis, immunocyte infiltration evaluation, tissue-specific gene expression and Weighted gene co expression network analysis (WGCNA) were performed to explore the immunological characteristic in TS with different X chromosome origins.Results34 and 52 DEIRGs were respectively identified in 45,Xm and 45,Xp patients compared with normal individuals. The identified DEIRGs in Xm group were significantly enriched in pathways associated with cancer. In Xp TS patients, the most enriched signals were immune response-related. A majority of genes involved in the above pathways were downregulated. PPI analysis identified 4 (FLT3, IL3RA, CSF2RA, PIK3R3) and 6 (PDGFRB, CSF2, IL5, PRL, CCL17 and IL2)hub genes for Xm and Xp groups, respectively. CIBERSORT results showed that the proportion of Tregs in the Xm group and the naive B cells and resting NK cells in the Xp group significantly increased, respectively. Tissue-specific expression results indicated that BDCA4+_dentritic cells and CD19+ B cells were the prominent specific expressed tissues in Xp patients. Results of WGCNA support the above analysis.ConclusionsThis study aims at studying the immunological characteristics of TS with different X chromosome origins. Pathways in cancer in Xm group and immune response in Xp group were suppressed. 4 and 6 hub IRGs were identified as biomarkers for Xm and Xp patients, respectively. B cells played important roles in Xp patients. Further studies are needed to draw more attention to the functional validation of these hub genes and the roles of B cells.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins

Wang²,

Yu³

et al. 2023

Front. Endocrinol.

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“…Haploinsufficiency of the immune system genes, such as FOXP3, may play a role in its pathophysiology (Lleo et al, 2012). In addition to autoimmune disease, there has been emerging evidence of immunodeficiency in TS, affecting both humoral and cell-mediated immunity (Swee et al, 2019;Thrasher et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study

Chenbhanich

Ungprasert

Kröner

2023

American J of Med Genetics Pt A

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We aimed to investigate the prevalence, resource utilization, and comorbidities of patients with Turner syndrome (TS) hospitalized in the United States. We identified patients within the Nationwide Inpatient Sample database from the year 2017 to 2019. A propensity‐matched cohort of non‐TS patients from the same database was constructed to serve as comparators. There were 9845 TS patients, corresponding to inpatient prevalence of 10.4 per 100,000 admissions. The most common admission diagnosis was sepsis (27.9%). TS patients had higher inpatient mortality (adjusted odds ratio 2.16, 95% confidence interval 1.57–2.96) and morbidity, including shock, ICU admission, acute kidney injury, systemic inflammatory response syndrome, acute respiratory distress syndrome, and multi‐organ failure. Increased risk of comorbidities, such as stroke, myocardial infarction, autoimmune diseases, and non‐variceal gastrointestinal bleeding, was observed. TS patients had longer length of stay (LOS; 5.1 days vs. 4.5 days, p < 0.01) and displayed a mean additional $5382 (p < 0.01) in total hospital costs and a mean additional $20,083 (p < 0.01) in total hospitalization charges. In conclusion, hospitalization of patients with TS was associated with a significantly higher inpatient morbidity, mortality, expenditures, and longer LOS compared to non‐TS patients. Patients with TS had a higher risk of cardiovascular complications, autoimmune diseases, and gastrointestinal bleeding.

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“…Consequently, cardiovascular risk in most patients is high and is a significant cause of morbidity and mortality. Turner syndrome also predisposes to autoimmune conditions, particularly autoimmune hypothyroidism and patients often have poor immune response to vaccination 13–15. Patients should be screened for associated conditions at diagnosis and at regular intervals during the follow-up (figure 1).…”

Section: Discussionmentioning

confidence: 99%

Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines

Howarth

Quinton

2022

BMJ Case Rep

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A woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening.Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed. Clinicians should be aware of the clinical features and associated complications of Turner syndrome to avoid delayed diagnosis and missed opportunities for treatment.In this report, we discuss the clinical features of this rare syndrome and current guidelines for screening and treatment. We stress the importance of peer-to-peer support and information sharing through patient-led groups, such as the Turner Syndrome Support Society.

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Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae type B and Streptococcus Pneumoniae

Cited by 4 publications

References 11 publications

Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins

Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins

Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study

Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines

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