Literature DB >> 22361515

Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.

Tadashi Ariga1.   

Abstract

Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease with unique and characteristic features. In 1994, the responsible gene for WAS, the WASP gene on X-chromosome, was identified. Since then, renewed clinical and basic researches of WAS have started and remarkably developed. I will comment on recent progress in the clinical and basic researches of WAS, including some topics reported by our and other groups.

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Year:  2012        PMID: 22361515     DOI: 10.2332/allergolint.11-RAI-0412

Source DB:  PubMed          Journal:  Allergol Int        ISSN: 1323-8930            Impact factor:   5.836


  4 in total

1.  A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia.

Authors:  Mais Arwani; Daniel Lee; Abdullah Haddad; Prerna Mewawalla
Journal:  BMJ Case Rep       Date:  2018-07-10

2.  A case of familial X-linked thrombocytopenia with a novel WAS gene mutation.

Authors:  Eu Kyoung Lee; Yeun-Joo Eem; Nack-Gyun Chung; Myung Shin Kim; Dae Chul Jeong
Journal:  Korean J Pediatr       Date:  2013-06-21

3.  Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies.

Authors:  Mohammad Taghi Arzanian
Journal:  Iran J Pediatr       Date:  2016-07-18       Impact factor: 0.364

4.  BCR-ABL1-induced downregulation of WASP in chronic myeloid leukemia involves epigenetic modification and contributes to malignancy.

Authors:  Welbert O Pereira; Daniel D De Carvalho; Maria Emilia Zenteno; Beatriz F Ribeiro; Jacqueline F Jacysyn; Luiz R Sardinha; Maria A Zanichelli; Nelson Hamerschlak; Gareth E Jones; Katia B Pagnano; Fabiola A Castro; Yolanda Calle; Gustavo P Amarante-Mendes
Journal:  Cell Death Dis       Date:  2017-10-12       Impact factor: 8.469

  4 in total

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