Abstract:
BACKGROUND:The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema. AIM:In this case report, we present our experience about two cases diagnosed with a new mutation. METHODS:We report phenotypical and laboratory description of two cases with WAS. RESULTS:We, for the first time, detected a new hemizygote mutation of WAS gene (NM_000377.2 p.M393lfs*102 (c.1178dupT)) in two patients. The first case was an 11-month-old boy presenting with complaints of recurrent soft tissue infection, ear infection, anemia, and thrombocytopenia with a low platelet volume. The second case was a 2-month-old boy presenting with thrombocytopenia and a low platelet volume. Both cases were the first-degree relatives: they were cousins and their mothers were sisters. CONCLUSION:Herein, we report two cases of WAS and a new gene mutation which would disrupt the WAS protein function within the Polyproline (PPP) domain. This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.
journal_name
Pediatr Hematol Oncoljournal_title
Pediatric hematology and oncologyauthors
Kamuran K,Çetin M,Geylan H,Karaman S,Demir N,Yurekturk E,Yavuz İ,Yavuz G,Tuncer Odoi
10.1080/08880018.2017.1397072subject
Has Abstractpub_date
2017-08-01 00:00:00pages
286-291issue
5eissn
0888-0018issn
1521-0669journal_volume
34pub_type
杂志文章abstract:UNLABELLED:In settings of limited health resources, using leukocyte-filtered blood is limited to patients with leukocyte-mediated complications. The aim of this study was to determine the patterns of lung dysfunction among patients with β-thalassemia major (BTM) after the application of the leukostop filter during tran...
journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章,评审
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章,meta分析
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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