Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene
Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full‐term female baby was delivered by a mother who experienced two s...
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| Veröffentlicht in: | European journal of haematology 2008-07, Vol.81 (1), p.70-74 |
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| container_title | European journal of haematology |
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| creator | Taketani, Takeshi Ito, Kimiko Mishima, Seiji Kanai, Rie Uchiyama, Atsushi Hirata, Yasushi Kumakura, Shunichi Ishikura, Hiroto Yamaguchi, Seiji |
| description | Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full‐term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti‐Naka (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities. |
| doi_str_mv | 10.1111/j.1600-0609.2008.01093.x |
| format | Article |
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Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full‐term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti‐Naka (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities.</description><identifier>ISSN: 0902-4441</identifier><identifier>EISSN: 1600-0609</identifier><identifier>DOI: 10.1111/j.1600-0609.2008.01093.x</identifier><identifier>PMID: 18462250</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>CD36 ; CD36 Antigens - genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; isoantigen ; Naka ; neonatal alloimmune thrombocytopenia ; neonatal isoimmune thrombocytopenia ; Pregnancy ; Protein Isoforms - genetics ; RNA Splicing ; Thrombocytopenia, Neonatal Alloimmune - etiology</subject><ispartof>European journal of haematology, 2008-07, Vol.81 (1), p.70-74</ispartof><rights>2008 The Authors. 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Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full‐term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti‐Naka (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities.</description><subject>CD36</subject><subject>CD36 Antigens - genetics</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Humans</subject><subject>Infant</subject><subject>isoantigen</subject><subject>Naka</subject><subject>neonatal alloimmune thrombocytopenia</subject><subject>neonatal isoimmune thrombocytopenia</subject><subject>Pregnancy</subject><subject>Protein Isoforms - genetics</subject><subject>RNA Splicing</subject><subject>Thrombocytopenia, Neonatal Alloimmune - etiology</subject><issn>0902-4441</issn><issn>1600-0609</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkUFz1SAUhRlHxz6rf8Fh5S7xAgkJCxfOs9o6nbpp1wwhl5Y3SYghqc2_l_je6NKyAS7nHC58hFAGOUvj4yFnEiADCSrnAHUODJTIn16Q3d-Dl2QHCnhWFAU7I29iPAAAV6x6Tc5YXUjOS9iR-QbDYGbTUR-D7_tlQDo_TKFvgl3nMOLgDbVmidjSZqXzOiK9ovsvQtIWnbceB7vSB_Poh3s6hEfsaBy7VE_blOjC1EcaXMrEo-seB3xLXjnTRXx3ms_J3deL2_1ldv3j29X-83VmRaVEVtsSWS2VhLYphSgNV6l9dA20wC2XhXUlY7yurUJ0VXqPQtdWnDFsmrZi4px8OOaOU_i5YJx176PFrjMDhiVqqQRIqYr_CtMfC15JmYT1UWinEOOETo-T7820agZ6Q6MPeiOgNwKbrdZ_0OinZH1_umNpemz_GU8skuDTUfDLd7g-O1hffL_cVuI34aWcgw</recordid><startdate>200807</startdate><enddate>200807</enddate><creator>Taketani, Takeshi</creator><creator>Ito, Kimiko</creator><creator>Mishima, Seiji</creator><creator>Kanai, Rie</creator><creator>Uchiyama, Atsushi</creator><creator>Hirata, Yasushi</creator><creator>Kumakura, Shunichi</creator><creator>Ishikura, Hiroto</creator><creator>Yamaguchi, Seiji</creator><general>Blackwell Publishing Ltd</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200807</creationdate><title>Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene</title><author>Taketani, Takeshi ; Ito, Kimiko ; Mishima, Seiji ; Kanai, Rie ; Uchiyama, Atsushi ; Hirata, Yasushi ; Kumakura, Shunichi ; Ishikura, Hiroto ; Yamaguchi, Seiji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3793-8c5e186960db5335a29917efb0d02c264cf511288c9eef72509efd7211ebbd713</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>CD36</topic><topic>CD36 Antigens - genetics</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>Humans</topic><topic>Infant</topic><topic>isoantigen</topic><topic>Naka</topic><topic>neonatal alloimmune thrombocytopenia</topic><topic>neonatal isoimmune thrombocytopenia</topic><topic>Pregnancy</topic><topic>Protein Isoforms - genetics</topic><topic>RNA Splicing</topic><topic>Thrombocytopenia, Neonatal Alloimmune - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Taketani, Takeshi</creatorcontrib><creatorcontrib>Ito, Kimiko</creatorcontrib><creatorcontrib>Mishima, Seiji</creatorcontrib><creatorcontrib>Kanai, Rie</creatorcontrib><creatorcontrib>Uchiyama, Atsushi</creatorcontrib><creatorcontrib>Hirata, Yasushi</creatorcontrib><creatorcontrib>Kumakura, Shunichi</creatorcontrib><creatorcontrib>Ishikura, Hiroto</creatorcontrib><creatorcontrib>Yamaguchi, Seiji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Taketani, Takeshi</au><au>Ito, Kimiko</au><au>Mishima, Seiji</au><au>Kanai, Rie</au><au>Uchiyama, Atsushi</au><au>Hirata, Yasushi</au><au>Kumakura, Shunichi</au><au>Ishikura, Hiroto</au><au>Yamaguchi, Seiji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene</atitle><jtitle>European journal of haematology</jtitle><addtitle>Eur J Haematol</addtitle><date>2008-07</date><risdate>2008</risdate><volume>81</volume><issue>1</issue><spage>70</spage><epage>74</epage><pages>70-74</pages><issn>0902-4441</issn><eissn>1600-0609</eissn><abstract>Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full‐term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti‐Naka (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>18462250</pmid><doi>10.1111/j.1600-0609.2008.01093.x</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | CD36 CD36 Antigens - genetics Female Frameshift Mutation Humans Infant isoantigen Naka neonatal alloimmune thrombocytopenia neonatal isoimmune thrombocytopenia Pregnancy Protein Isoforms - genetics RNA Splicing Thrombocytopenia, Neonatal Alloimmune - etiology |
| title | Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene |
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