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About 126 results

ALLMedicine™ X-linked Thrombocytopenia Center

Research & Reviews  63 results

Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078428
Medicine Liu H, Wang Y et. al.

Apr 21st, 2021 - Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by thrombocytopenia, small platelets, eczema, immunodeficiency, and an increased risk of autoimmunity and malignancies. X-linked thrombocytopenia (XLT), the milder p...

Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in ...
https://doi.org/10.3324/haematol.2020.249805
Haematologica Bergemalm D, Ramström S et. al.

Oct 15th, 2020 - In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describ...

Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia...
https://doi.org/10.1007/s10875-019-00689-2
Journal of Clinical Immunology; Shah AJ, Sokolic R et. al.

Oct 17th, 2019 - We undertook a study to determine the impact of Wiskott Aldrich Syndrome (WAS) and X-linked thrombocytopenia (XLT) and their therapies upon the health-related quality of life (HRQOL) of patients and their families. We undertook a survey of patient...

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wisko...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721834
The Journal of Allergy and Clinical Immunology; Sereni L, Castiello MC et. al.

Mar 30th, 2019 - Thrombocytopenia is a serious issue for all patients with classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it causes severe and life-threatening bleeding. Lentiviral gene therapy (GT) for WAS has shown promising...

A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047725
BMJ Case Reports; Arwani M, Lee D et. al.

Jul 11th, 2018 - Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad ...

see more →

Clinicaltrials.gov  63 results

Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078428
Medicine Liu H, Wang Y et. al.

Apr 21st, 2021 - Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by thrombocytopenia, small platelets, eczema, immunodeficiency, and an increased risk of autoimmunity and malignancies. X-linked thrombocytopenia (XLT), the milder p...

Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in ...
https://doi.org/10.3324/haematol.2020.249805
Haematologica Bergemalm D, Ramström S et. al.

Oct 15th, 2020 - In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describ...

Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia...
https://doi.org/10.1007/s10875-019-00689-2
Journal of Clinical Immunology; Shah AJ, Sokolic R et. al.

Oct 17th, 2019 - We undertook a study to determine the impact of Wiskott Aldrich Syndrome (WAS) and X-linked thrombocytopenia (XLT) and their therapies upon the health-related quality of life (HRQOL) of patients and their families. We undertook a survey of patient...

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wisko...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721834
The Journal of Allergy and Clinical Immunology; Sereni L, Castiello MC et. al.

Mar 30th, 2019 - Thrombocytopenia is a serious issue for all patients with classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it causes severe and life-threatening bleeding. Lentiviral gene therapy (GT) for WAS has shown promising...

A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047725
BMJ Case Reports; Arwani M, Lee D et. al.

Jul 11th, 2018 - Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad ...

see more →