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Journal of Pediatrics Review، جلد ۳، شماره ۲، صفحات ۳۸-۴۱
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژههای فارسی مقاله |
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| عنوان انگلیسی |
Wiskott-Aldrich Syndrome With Normal-Sized Platelets in an Eighteen-Month-Old Boy: A Rare Mutation |
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| چکیده انگلیسی مقاله |
Introduction: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema, and recurrent infections. The disease is usually associated with small defective platelets. Case Presentation: We described an 18-month-old boy who presented with lower gastrointestinal bleeding, eczema, and recurrent infections. There was pancytopenia with normal-sized platelets. In addition, the CD4 count was significantly low and serum IgA and IgE levels were increased. The diagnosis of WAS was confirmed by detecting a mutation of WAS gene, which was due to a deletion mutation resulting in frameshift (c.177DelT). Conclusions: Usually microplatelets with mean platelet volume of 4-5 fL are seen in WAS, but in this case, the patient had normal-sized platelets with a rare mutation of WAS gene. Therefore, high index of clinical suspicion is needed to diagnose WAS. |
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| کلیدواژههای انگلیسی مقاله |
Wiskott-Aldrich Syndrome, Eczema, Thrombocytopenia |
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| نویسندگان مقاله |
jayitri mazumdar | jayitri mazumdar
sumana kanjilal | sumana kanjilal
anjan داس | anjan das
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| نشانی اینترنتی |
http://jpr.mazums.ac.ir/browse.php?a_code=A-10-30-32&slc_lang=en&sid=en |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/268/article-268-565532.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
ژنتیک پزشکی |
| نوع مقاله منتشر شده |
Case & Review |
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