Dataset Information

Frontier and hotspot evolution in Wiskott-Aldrich syndrome: A bibliometric analysis from 2001 to 2021.

ABSTRACT:

Background

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder. Despite our enormous progress in the strategies used to diagnose, treat, and cure WAS, no bibliometric studies have been performed in this research field. This study explored the trends in WAS research through a bibliometric analysis evaluating relevant literature quantitatively and qualitatively.

Methods

The literature concerning WAS from 2001 to 2021 was retrieved from the Science Citation Index Expanded (SCI-expanded) of the Web of Science Core Collection database. Acquired data were then visually analyzed using CiteSpace and VOSviewer.

Results

2036 papers were included in the final analysis. The annual publication outputs reached its peak in 2013 but declined in recent years. The dominant position of the United States in WAS research was quite obvious. Harvard University (USA), University College London (UK), and Inserm (France) were the three most prolific institutions. Adrian J. Thrasher exerted significant publication impact and made the most notable contributions in the field of WAS. Blood was the most influential journal with the highest publication outputs, and nearly all the top 10 journals and co-cited journals belonged to Q1. Immune dysregulation, thrombocytopenia, syndrome protein deficiency, stem cell, mutation, and diagnosis were the keywords with the strongest citation burst.

Conclusion

From 2001 to 2021, the United States was a global leader in the WAS research. Collaboration between countries and institutions is expected to deepen and strengthen in the future. Research hotspots included pathogenesis, clinical manifestations, diagnosis, and therapy. Our results suggest a greater understanding of the mechanistic underpinnings of immune dysfunction in WAS patients, the application of targeted therapies for individual complications, and the development of curative approaches, which will remain research hotspots in the future.

SUBMITTER: Liu S

PROVIDER: S-EPMC9771241 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Publications

Frontier and hotspot evolution in Wiskott-Aldrich syndrome: A bibliometric analysis from 2001 to 2021.

Liu Shixu S Yao Xiaoyan X Xia Kun K Zhang Jinzhi J Liu Yanyi Y Xia Xiao X Li Guangxi G

Medicine 20221201 50

<h4>Background</h4>Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder. Despite our enormous progress in the strategies used to diagnose, treat, and cure WAS, no bibliometric studies have been performed in this research field. This study explored the trends in WAS research through a bibliometric analysis evaluating relevant literature quantitatively and qualitatively.<h4>Methods</h4>The literature concerning WAS from 2001 to 2021 was retrieved from the Science Cit ...[more]

PMID: 36550896

Similar Datasets

Project description:BackgroundWiskott Aldrich syndrome (WAS) is characterized by bleeding manifestations, recurrent infections, eczema, autoimmunity, and malignancy. Over the last decade, improved awareness and better in-house diagnostic facilities at several centers in India has resulted in increased recognition of WAS. This study reports collated data across major primary immunodeficiency diseases (PID) centers in India that are involved in care of children with WAS and highlights the varied clinical presentations, genetic profile, and outcomes of patients in India.MethodsRequest to share data was sent to multiple centers in India that are involved in care and management of patients with PID. Six centers provided requisite data that were compiled and analyzed.ResultsIn this multi-institutional cohort, clinical details of 108 patients who had a provisional diagnosis of WAS were received. Of these, 95 patients with 'definite WAS' were included Fourteen patients were classified as XLT and 81 patients as WAS. Median age at onset of symptoms of patients was 3 months (IQR 1.6, 6.0 months) and median age at diagnosis was 12 months (IQR 6,48 months). Clinical profile included bleeding episodes (92.6%), infections (84.2%), eczema (78.9%), various autoimmune manifestations (40%), and malignancy (2.1%). DNA analysis revealed 47 variants in 67 cases. Nonsense and missense variants were the most common (28.4% each), followed by small deletions (19.4%), and splice site defects (16.4%). We also report 24 novel variants, most of these being frameshift and nonsense mutations resulting in premature termination of protein synthesis. Prophylactic intravenous immunoglobulin (IVIg) was initiated in 52 patients (54.7%). Hematopoietic stem cell transplantation (HSCT) was carried out in 25 patients (26.3%). Of those transplanted, disease-free survival was seen in 15 patients (60%). Transplant related mortality was 36%. Outcome details were available for 89 patients. Of these, 37% had died till the time of this analysis. Median duration of follow-up was 36 months (range 2 weeks- 12 years; IQR 16.2 months- 70 months).ConclusionsWe report the first nationwide cohort of patients with WAS from India. Bleeding episodes and infections are common manifestations. Mortality continues to be high as curative therapy is not accessible to most of our patients.

Dataset Information

Frontier and hotspot evolution in Wiskott-Aldrich syndrome: A bibliometric analysis from 2001 to 2021.

Background

Methods

Results

Conclusion

Publications

Frontier and hotspot evolution in Wiskott-Aldrich syndrome: A bibliometric analysis from 2001 to 2021.

Similar Datasets

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