Associated Papers
A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.
Razaghian A et al.
Journal of Clinical Immunology, 2026
Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.
Mallebranche C et al.
American Journal of Hematology, 2025
Screening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.
Deivasigamani P et al.
Indian Journal of Pediatrics, 2025
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Gök V et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.
Gaikwad P et al.
Journal of Clinical Immunology, 2024
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
Ji X et al.
Orphanet Journal of Rare Diseases, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.
Shakerian L et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
[Gene analysis of a family with Wiskott-Aldrich syndrome].
Wang Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins CJ et al.
Frontiers in Immunology, 2020
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.
Jin YY et al.
Frontiers in Immunology, 2019
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins CJ et al.
Frontiers in Immunology, 2018
Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome.
Zhou L et al.
Human Immunology, 2017
[Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome].
Li W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
Liu DW et al.
Pediatric Blood & Cancer, 2015
T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome.
Wu J et al.
The Journal of Allergy and Clinical Immunology, 2015
Current and emerging treatment options for Wiskott-Aldrich syndrome.
Worth AJ et al.
Expert Review of Clinical Immunology, 2015
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].
Liu N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
Shin CR et al.
Bone Marrow Transplantation, 2012
Molecular basis of Wiskott-Aldrich syndrome in patients from India.
David S et al.
European Journal of Haematology, 2012
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.
Yoon SH et al.
Pediatric Blood & Cancer, 2012
[Analysis of prenatal diagnosis for seven high-risk fetuses with Wiskott-Aldrich syndrome].
Zhao Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.
Zhang ZY et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2010
Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.
Lee YH et al.
Journal of Korean Medical Science, 2009
Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.
Lee PP et al.
Journal of Clinical Immunology, 2009
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.
Moratto D et al.
Expert Review of Clinical Immunology, 2007
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.
Pai SY et al.
Bone Marrow Transplantation, 2006
A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.
Kim HJ et al.
International Journal of Hematology, 2006
Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.
Lutskiy MI et al.
Journal of Immunology (baltimore, Md. : 1950), 2005
Structure and function of the Wiskott-Aldrich syndrome protein.
Ochs HD et al.
Current Opinion in Hematology, 2005
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Jin Y et al.
Blood, 2004
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Bourne HC et al.
Pathology, 2004
Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.
Jo EK et al.
International Journal of Hematology, 2003
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype.
Linder S et al.
Immunology and Cell Biology, 2003
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression.
Allavena P et al.
European Journal of Immunology, 2001
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Qasim W et al.
British Journal of Haematology, 2001
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
Zhu Q et al.
Blood, 1997
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D et al.
Human Genetics, 1996
Unrelated donor BMT for Wiskott-Aldrich syndrome.
Lenarsky C et al.
Bone Marrow Transplantation, 1993
[Wiskott-Aldrich syndrome].
Kuramoto A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977
[Clinical conditions and nursing of a child with Wiskott-Aldrich syndrome].
Hoshina K et al.
[kango Gijutsu] : [nursing Technique], 1976