Early diagnosis of Wiskott-Aldrich syndrome in the neonatal period and successful haematopoietic stem cell transplant in infancy
Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterised by triad of eczema, microthrombocytopenia and recurrent infections. We herein report a case, where a male new-born with thrombocytopenia and no other symptoms was suspected of WAS in view of the significant fami...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Current Medicine Research and Practice |
| Subjects: | |
| Online Access: | http://www.cmrpjournal.org/article.asp?issn=2352-0817;year=2021;volume=11;issue=6;spage=288;epage=290;aulast=Rauf |
| Summary: | Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterised by triad of eczema, microthrombocytopenia and recurrent infections. We herein report a case, where a male new-born with thrombocytopenia and no other symptoms was suspected of WAS in view of the significant family history of two previous sibling deaths. The diagnosis was confirmed by flowcytometry for WAS protein expression. He was initially managed with intravenous immunoglobulin replacement, regular cotrimoxazole prophylaxis, emollients and topical steroids for eczema (which child developed from the third month). The child underwent haematopoietic stem cell transplant (HSCT) at 8 months of age successfully and has remained asymptomatic at 5 years of follow-up. Early diagnosis of inborn error of immunity is extremely important for the prevention of complications and successful treatment including HSCT. |
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| ISSN: | 2352-0817 2352-0825 |