X-linked agammaglobulinemia diagnosed in adulthood: a case report
X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who...
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| Veröffentlicht in: | International journal of hematology 2006-08, Vol.84 (2), p.154-157 |
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| container_title | International journal of hematology |
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| creator | Mitsui, Takeki Tsukamoto, Norifumi Kanegane, Hirokazu Agematsu, Kazunaga Sekigami, Tomomi Irisawa, Hiroyuki Saitoh, Takayuki Uchiumi, Hideki Handa, Hiroshi Matsushima, Takafumi Karasawa, Masamitsu Murakami, Hirokazu Miyawaki, Toshio Nojima, Yoshihisa |
| description | X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene. |
| doi_str_mv | 10.1532/IJH97.06095 |
| format | Article |
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Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). 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Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene.</description><subject>Adult</subject><subject>Agammaglobulinemia - blood</subject><subject>Agammaglobulinemia - genetics</subject><subject>Agammaglobulinemia - microbiology</subject><subject>Asian Continental Ancestry Group</subject><subject>Bacterial Infections - blood</subject><subject>Bacterial Infections - genetics</subject><subject>Gene Expression Regulation, Enzymologic - genetics</subject><subject>Genetic Diseases, X-Linked - blood</subject><subject>Genetic Diseases, X-Linked - genetics</subject><subject>Genetic Diseases, X-Linked - microbiology</subject><subject>Humans</subject><subject>Immunoglobulins - blood</subject><subject>Japan</subject><subject>Leukocyte Count</subject><subject>Male</subject><subject>Mutation, Missense</subject><subject>Protein-Tyrosine Kinases - biosynthesis</subject><subject>Protein-Tyrosine Kinases - genetics</subject><issn>0925-5710</issn><issn>1865-3774</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpd0E1Lw0AQBuBFFBurJ-8SPHhLnf3eeCtFbaXgRcFbmGS3MTXJxmxy8N8bsV48Dcz7MLwMIZcUFlRydrt5Wqd6AQpSeUQiapRMuNbimESQMplITWFGzkLYA1ANQp-SGVUpU5SbiCzfkrpqP5yNscSmwbL2-ThtXFNhbCssWx-msGpjtGM9vHtv72KMCwwu7l3n--GcnOywDu7iMOfk9eH-ZbVOts-Pm9Vym3RUqSFRqlBgizwtUmBag7TCOK6UYNJazMFaKQSjqKiUudgZzZGxH2gsOgDB5-Tm927X-8_RhSFrqlC4usbW-TFkymjNuTYTvP4H937s26lbxqjmxkhDJ3R1QGPeOJt1fdVg_5X9fYZ_AxMpYo4</recordid><startdate>200608</startdate><enddate>200608</enddate><creator>Mitsui, Takeki</creator><creator>Tsukamoto, Norifumi</creator><creator>Kanegane, Hirokazu</creator><creator>Agematsu, Kazunaga</creator><creator>Sekigami, Tomomi</creator><creator>Irisawa, Hiroyuki</creator><creator>Saitoh, Takayuki</creator><creator>Uchiumi, Hideki</creator><creator>Handa, Hiroshi</creator><creator>Matsushima, Takafumi</creator><creator>Karasawa, Masamitsu</creator><creator>Murakami, Hirokazu</creator><creator>Miyawaki, Toshio</creator><creator>Nojima, Yoshihisa</creator><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>3V.</scope><scope>7RV</scope><scope>7T5</scope><scope>7T7</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>200608</creationdate><title>X-linked agammaglobulinemia diagnosed in adulthood: a case report</title><author>Mitsui, Takeki ; Tsukamoto, Norifumi ; Kanegane, Hirokazu ; Agematsu, Kazunaga ; Sekigami, Tomomi ; Irisawa, Hiroyuki ; Saitoh, Takayuki ; Uchiumi, Hideki ; Handa, Hiroshi ; Matsushima, Takafumi ; Karasawa, Masamitsu ; Murakami, Hirokazu ; Miyawaki, Toshio ; Nojima, Yoshihisa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p166t-66c60dcb9c9027705d48e366425ddab0dd54421a6155b4f873a2227708dae0043</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adult</topic><topic>Agammaglobulinemia - blood</topic><topic>Agammaglobulinemia - genetics</topic><topic>Agammaglobulinemia - microbiology</topic><topic>Asian Continental Ancestry Group</topic><topic>Bacterial Infections - blood</topic><topic>Bacterial Infections - genetics</topic><topic>Gene Expression Regulation, Enzymologic - genetics</topic><topic>Genetic Diseases, X-Linked - blood</topic><topic>Genetic Diseases, X-Linked - genetics</topic><topic>Genetic Diseases, X-Linked - microbiology</topic><topic>Humans</topic><topic>Immunoglobulins - blood</topic><topic>Japan</topic><topic>Leukocyte Count</topic><topic>Male</topic><topic>Mutation, Missense</topic><topic>Protein-Tyrosine Kinases - biosynthesis</topic><topic>Protein-Tyrosine Kinases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mitsui, Takeki</creatorcontrib><creatorcontrib>Tsukamoto, Norifumi</creatorcontrib><creatorcontrib>Kanegane, Hirokazu</creatorcontrib><creatorcontrib>Agematsu, Kazunaga</creatorcontrib><creatorcontrib>Sekigami, Tomomi</creatorcontrib><creatorcontrib>Irisawa, Hiroyuki</creatorcontrib><creatorcontrib>Saitoh, Takayuki</creatorcontrib><creatorcontrib>Uchiumi, Hideki</creatorcontrib><creatorcontrib>Handa, Hiroshi</creatorcontrib><creatorcontrib>Matsushima, Takafumi</creatorcontrib><creatorcontrib>Karasawa, Masamitsu</creatorcontrib><creatorcontrib>Murakami, Hirokazu</creatorcontrib><creatorcontrib>Miyawaki, Toshio</creatorcontrib><creatorcontrib>Nojima, Yoshihisa</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mitsui, Takeki</au><au>Tsukamoto, Norifumi</au><au>Kanegane, Hirokazu</au><au>Agematsu, Kazunaga</au><au>Sekigami, Tomomi</au><au>Irisawa, Hiroyuki</au><au>Saitoh, Takayuki</au><au>Uchiumi, Hideki</au><au>Handa, Hiroshi</au><au>Matsushima, Takafumi</au><au>Karasawa, Masamitsu</au><au>Murakami, Hirokazu</au><au>Miyawaki, Toshio</au><au>Nojima, Yoshihisa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X-linked agammaglobulinemia diagnosed in adulthood: a case report</atitle><jtitle>International journal of hematology</jtitle><addtitle>Int J Hematol</addtitle><date>2006-08</date><risdate>2006</risdate><volume>84</volume><issue>2</issue><spage>154</spage><epage>157</epage><pages>154-157</pages><issn>0925-5710</issn><eissn>1865-3774</eissn><abstract>X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene.</abstract><cop>Japan</cop><pub>Springer Nature B.V</pub><pmid>16926138</pmid><doi>10.1532/IJH97.06095</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Agammaglobulinemia - blood Agammaglobulinemia - genetics Agammaglobulinemia - microbiology Asian Continental Ancestry Group Bacterial Infections - blood Bacterial Infections - genetics Gene Expression Regulation, Enzymologic - genetics Genetic Diseases, X-Linked - blood Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - microbiology Humans Immunoglobulins - blood Japan Leukocyte Count Male Mutation, Missense Protein-Tyrosine Kinases - biosynthesis Protein-Tyrosine Kinases - genetics |
| title | X-linked agammaglobulinemia diagnosed in adulthood: a case report |
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