Articles with "aldrich syndrome" as a keyword



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Wiskott–Aldrich syndrome: Oral findings and microbiota in children and review of the literature

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Published in 2022 at "Clinical and Experimental Dental Research"

DOI: 10.1002/cre2.503

Abstract: Wiskott–Aldrich syndrome (WAS) is a rare X‐linked primary immunodeficiency, characterized by micro‐thrombocytopenia, recurrent infections, and eczema. This study aims to describe common oral manifestations and evaluate oral microbioma of WAS patients. read more here.

Keywords: aldrich syndrome; oral findings; findings microbiota; wiskott aldrich ... See more keywords
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IL‐18: A potential inflammation biomarker in Wiskott–Aldrich syndrome

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Published in 2021 at "European Journal of Immunology"

DOI: 10.1002/eji.202049024

Abstract: Analysis of serum cytokine levels in Wiskott–Aldrich syndrome patients pre‐ and post‐ treatment reveals IL‐18 as a stable and reliable marker of inflammation. Definitive stem cell treatment with good myeloid correction correlates with resolution of… read more here.

Keywords: potential inflammation; inflammation biomarker; biomarker wiskott; inflammation ... See more keywords
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Wiskott–Aldrich syndrome: Two case reports with a novel mutation

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Published in 2017 at "Pediatric Hematology and Oncology"

DOI: 10.1080/08880018.2017.1397072

Abstract: ABSTRACT Background: The Wiskott–Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections,… read more here.

Keywords: wiskott aldrich; aldrich syndrome; mutation; case ... See more keywords
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Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

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Published in 2017 at "Platelets"

DOI: 10.1080/09537104.2016.1246715

Abstract: Abstract Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease resulting from variants in the WAS gene, characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the fact that WAS is traditionally differentiated from… read more here.

Keywords: presenting macrothrombocytopenia; child presenting; aldrich syndrome; wiskott aldrich ... See more keywords
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Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.

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Published in 2021 at "Platelets"

DOI: 10.1080/09537104.2021.1988549

Abstract: Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS… read more here.

Keywords: novel mutations; syndrome linked; aldrich syndrome; two novel ... See more keywords
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Wiskott-Aldrich Syndrome Misdiagnosed as Immune Thrombocytopenic Purpura: A Case Report.

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Published in 2018 at "Journal of Pediatric Hematology/Oncology"

DOI: 10.1097/mph.0000000000000949

Abstract: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency characterized by various clinical phenotypes. We report the case of a 3-year-old immigrant boy presenting with persistent infant-onset thrombocytopenia treated for refractory immune thrombocytopenic purpura. Sequence analysis… read more here.

Keywords: wiskott aldrich; thrombocytopenic purpura; aldrich syndrome; immune thrombocytopenic ... See more keywords
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Successful Haploidentical Stem Cell Transplant With Posttransplant Cyclophosphamide in Wiskott-Aldrich Syndrome With Myeloablative Conditioning.

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Published in 2020 at "Journal of Pediatric Hematology/Oncology"

DOI: 10.1097/mph.0000000000001841

Abstract: Hematopoietic stem cell transplant (HSCT) is the only curative treatment modality for Wiskott-Aldrich syndrome. Haploidentical HSCT with posttransplant cyclophosphamide (PTCy) is an upcoming option in children with nonmalignant conditions. However, only few cases have been… read more here.

Keywords: aldrich syndrome; myeloablative conditioning; hsct; wiskott aldrich ... See more keywords
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Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome

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Published in 2021 at "Journal of Pediatric Hematology/Oncology"

DOI: 10.1097/mph.0000000000002150

Abstract: Thrombocytopenia is often seen as a laboratory finding during childhood. A supposed idiopathic thrombocytopenic purpura patient who was later diagnosed as Wiskott-Aldrich syndrome (WAS) and developed acquired thrombotic thrombocytopenic purpura (aTTP). Although autoimmune manifestations in… read more here.

Keywords: acquired thrombotic; thrombocytopenic purpura; aldrich syndrome; year ... See more keywords
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Neuropsychological Profile of a Girl with Wiskott-Aldrich Syndrome

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Published in 2018 at "Cognitive And Behavioral Neurology"

DOI: 10.1097/wnn.0000000000000143

Abstract: We report the neuropsychological profile of a 6-year-old girl with Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency disorder associated with thrombocytopenia, eczema, recurrent infections, and malignancy. Wiskott-Aldrich syndrome occurs almost exclusively in males and is extremely… read more here.

Keywords: wiskott aldrich; aldrich syndrome; neuropsychological profile; girl wiskott ... See more keywords
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Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.

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Published in 2023 at "British journal of haematology"

DOI: 10.1111/bjh.18875

Abstract: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder caused by WAS gene mutations resulting in haematopoietic/immune cell defects. Recent studies report accelerated death of WAS platelets and lymphocytes. Data on megakaryocyte (MK) maturation, viability and… read more here.

Keywords: aldrich syndrome; maturation; accelerated death; death ... See more keywords
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Atypical Wiskott–Aldrich syndrome without thrombocytopenia partially responding to omalizumab therapy

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Published in 2022 at "Clinical and Experimental Dermatology"

DOI: 10.1111/ced.15119

Abstract: Primary immunodeficiencies with eczema can be easily misdiagnosed as atopic eczema, and thus require a high degree of awareness for diagnosis. Wiskott-Aldrich syndrome (WAS) is a rare disease and the fact that WAS without microthrombocytopenia… read more here.

Keywords: aldrich syndrome; wiskott aldrich; atypical wiskott; syndrome without ... See more keywords