{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:27:55Z","timestamp":1783344475507,"version":"3.54.6"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T00:00:00Z","timestamp":1637020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiskott\u2010Aldrich syndrome (WAS) also called the eczema\u2010thrombocytopenia\u2010immunodeficiency syndrome is a primary immunodeficiency disease with X\u2010linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe \u2018classical\u2019 WAS or less severe \u2018non\u2010classical\u2019 WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non\u2010classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by <jats:italic>WAS<\/jats:italic> gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).<\/jats:p>","DOI":"10.1111\/sji.13115","type":"journal-article","created":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T21:35:51Z","timestamp":1636580151000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and molecular characteristics of Wiskott\u2010Aldrich Syndrome in five unrelated Chinese families"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5757-5575","authenticated-orcid":false,"given":"Jiali","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Guangxi Medical University Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junli","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Xiamen Children\u2019s Hospital Affiliated to Fudan University Xiamen 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