There is abundant published evidence associating the WAS gene with Wiskott-Aldrich syndrome since the gene-disease relationship was first proposed by Derry et al. (1994). Multiple case level studies have been performed with WAS patients that have variants in the WAS gene. WAS expresses in lymphocytes, spleen and thymus. Northern blot and Western blot analysis for WAS indicated no expression of RNA or protein from B lymphoblasts derived from peripheral blood of WAS patients. Multiple WAS deficient mouse and zebra fish models have been established to show consistent phenotypes with WAS patients, including thrombocytopenia, lymphopenia, defective T cell activation and defects in both the wound-induced inflammatory response and in immune-cell-mediated resistance to bacterial infection. Zebrafish WASp mutant can be rescued by WT hWASp. All of these types of evidence are consistent with a definitive relationship between the WAS gene and Wiskott-Aldrich syndrome.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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