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1,186 Possible Causes for Mutation in the, WAS, Gene

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  • Wiskott Aldrich Syndrome

    While RV-mediated gene therapy was associated with a high occurrence of leukaemia, results obtained in the first patients treated with LV-based HSC gene therapy indicate a[] Wiskott-Aldrich syndrome rare disease Wiskott syndrome WAS Immunodeficiency 2 Aldrich Syndrome WISKOTT-ALDRICH SYNDROME; WAS Wiskott-Aldrich Syndrome 1 Eczema-Thrombocytopenia-Immunodeficiency[] This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.[]

  • Primary Immune Deficiency Disorder

    Most PIDD result from gene defects, i.e., failures in transcription, translation or post-translational modification may lead to the synthesis of defective gene products; other[] Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency.[] In Autoimmune Lymphoproliferative Syndrome (ALPS) due to FAS mutation, 33% of patients developed aseptic arthritis, whereas in ALPS due to FASL mutation rarely osteopenia[]

  • Congenital Neutropenia

    Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration.[] syndrome (WAS) gene.[] The results showed different mutations including 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations.[]

  • Familial Hypercholesterolemia

    To date, 71 mutations in the LDL receptor gene have been characterized at a molecular level.[] […] syndrome H01232 Syndromic multisystem autoimmune disease H01295 Neurodegeneration due to cerebral folate transport deficiency H01383 Hyperlipoproteinemia type IIa H01523 Wiskott-Aldrich[] Computational biology confirmed the deleterious nature of this mutation.[]

  • Metachromatic Leukodystrophy

    This review discusses the potential therapeutic application of hematopoietic stem cell gene therapy and intracerebral gene transfer (brain gene therapy) in patients with MLD[] July) report progress on both fronts in gene therapy trials of three patients with metachromatic leukodystrophy (MLD), a neurodegenerative disorder, and three patients with Wiskott-Aldrich[] The identified mutation was expressed transiently in African green monkey kidney (COS) cells to determine the effect of the mutation on arylsulfatase A activity.[]

  • Amegakaryocytic Thrombocytopenia

    Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with[] North Am 2009;23:321 ) Initially thought to have variable inheritance (autosomal recessive or X linked) but X linked forms now reinterpreted as mild or attenuated forms of Wiskott-Aldrich[] Mutations in the gene for the thrombopoietin receptor MPL were defined as the molecular cause in CAMT patients.[]

  • Autosomal Agammaglobulinemia

    Nearly 30% of ARA cases present mutations in the μ heavy constant region gene IGHM .[] […] ulcerations Chédiak–Higashi syndrome Griscelli syndrome WiskottAldrich syndrome Chédiak–Higashi syndrome Griscelli syndrome IgA deficiency Chédiak–Higashi syndrome Chronic[] Mutations in Igalpha ( CD79a ) result in a complete block in B-cell development. J Clin Investig. 1999;104(8):1115–21. doi: 10.1172/JCI7696 .[]

  • Lafora Disease

    The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420.[] syndrome Sanger sequencing of the WAS gene Wiskott-Aldrich syndrome Sanger sequencing of the WASF1 gene Wiskott-Aldrich syndrome Sanger sequencing of the WASF2 gene Wiskott-Aldrich[] […] and NHLRC1 genes, Human Mutation, 30, 5, (715-723), (2009).[]

  • Agammaglobulinemia

    Development of gene therapy by transfer of the BTK gene into hematopoietic progenitors could represent an alternative strategy for the treatment of Brutons disease, with the[] X-linked agammaglobulinemia, common variable immunodeficiency, Chediak-Higashi syndrome, Wiskott-Aldrich syndrome, and X-linked lymphoproliferative disorder.[] The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein.[]

  • X-Linked Severe Combined Immunodeficiency

    Definitive conclusions cannot be thrown due to the limited number of gene therapy-treated patients and their relatively short follow-up.[] ., working together to improve the lives of people with severe combined immunodeficiency, Wiskott-Aldrich syndrome, and chronic granulomatous disease through research.[] mutation in the proband's mother in family 2.[]