A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4
Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However,...
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| Veröffentlicht in: | Turkish journal of pediatrics 2006-01, Vol.48 (1), p.66-68 |
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| container_title | Turkish journal of pediatrics |
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| creator | Doğu, Figen Ariga, Tadashi Ikincioğullari, Aydan Bozdoğan, Günseli Aytekin, Caner Metin, Ayşe Babacan, Emel |
| description | Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However, the identification of the WASP gene has made possible a definite WAS diagnosis for these cases. In this report, we present a 26-month-old boy who had received several ineffective treatments for chronic immune thrombocytopenic purpura. He was then suspected to have WAS because of the early onset of thrombocytopenia and small platelets. The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis. |
| doi_str_mv | 10.24953/turkjped.2006.2598 |
| format | Article |
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Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However, the identification of the WASP gene has made possible a definite WAS diagnosis for these cases. In this report, we present a 26-month-old boy who had received several ineffective treatments for chronic immune thrombocytopenic purpura. He was then suspected to have WAS because of the early onset of thrombocytopenia and small platelets. The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis.</description><identifier>ISSN: 0041-4301</identifier><identifier>EISSN: 2791-6421</identifier><identifier>DOI: 10.24953/turkjped.2006.2598</identifier><identifier>PMID: 16562789</identifier><language>eng</language><publisher>Turkey: Hacettepe University Faculty of Medicine</publisher><subject>Child, Preschool ; DNA Mutational Analysis ; Humans ; Male ; Wiskott-Aldrich Syndrome - genetics ; Wiskott-Aldrich Syndrome Protein - genetics</subject><ispartof>Turkish journal of pediatrics, 2006-01, Vol.48 (1), p.66-68</ispartof><rights>Copyright Hacettepe University Faculty of Medicine Jan-Mar 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16562789$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Doğu, Figen</creatorcontrib><creatorcontrib>Ariga, Tadashi</creatorcontrib><creatorcontrib>Ikincioğullari, Aydan</creatorcontrib><creatorcontrib>Bozdoğan, Günseli</creatorcontrib><creatorcontrib>Aytekin, Caner</creatorcontrib><creatorcontrib>Metin, Ayşe</creatorcontrib><creatorcontrib>Babacan, Emel</creatorcontrib><title>A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4</title><title>Turkish journal of pediatrics</title><addtitle>Turk J Pediatr</addtitle><description>Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. 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The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis.</description><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Humans</subject><subject>Male</subject><subject>Wiskott-Aldrich Syndrome - genetics</subject><subject>Wiskott-Aldrich Syndrome Protein - genetics</subject><issn>0041-4301</issn><issn>2791-6421</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkL1OwzAYRS0EglJ4AiRkMbCl-N_xWCr-pEoslRgtJ3HUtElcbAfo2-PSwsB0h-_cq08HgCuMJoQpTu_i4Nerja0mBCExIVzlR2BEpMKZYAQfgxFCDGeMInwGzkNYIUQkUvIUnGHBBZG5GoH7KSxNsNDV8K0JaxdjNm0r35RLGLZ95V1n4WcTl7CysHcfDnZDNLFxPTQR2q-U7AKc1KYN9vKQY7B4fFjMnrP569PLbDrPSkp4zLiquaGmIjXHSBJcCIIKIwhlVVFKxHmBKiYVs9hgRoTJc0NqpWhqFVgVdAxu97Mb794HG6LumlDatjW9dUPQQsokhaEE3vwDV27wfXpNEyyIEjynCaJ7qPQuBG9rvfFNZ_xWY6R_9OpfvXqnV-_0ptb1YXoounT56xx80m8Vu3Zl</recordid><startdate>20060101</startdate><enddate>20060101</enddate><creator>Doğu, Figen</creator><creator>Ariga, Tadashi</creator><creator>Ikincioğullari, Aydan</creator><creator>Bozdoğan, Günseli</creator><creator>Aytekin, Caner</creator><creator>Metin, Ayşe</creator><creator>Babacan, Emel</creator><general>Hacettepe University Faculty of Medicine</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>4T-</scope><scope>4U-</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>EDSIH</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20060101</creationdate><title>A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4</title><author>Doğu, Figen ; 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| subjects | Child, Preschool DNA Mutational Analysis Humans Male Wiskott-Aldrich Syndrome - genetics Wiskott-Aldrich Syndrome Protein - genetics |
| title | A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4 |
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