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单基因遗传病： X-连锁联合免疫缺陷

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导读	<P>中文名称： X-连锁联合免疫缺陷</P><P>英文名称：Combined Immunodeficiency, X-Linked </P><P>OMIM号： 312863 </P><P>所属系统：免疫系统</P><P>遗传方式：XR</P><DIV c...

中文名称： X-连锁联合免疫缺陷英文名称：Combined Immunodeficiency, X-Linked OMIM号： 312863 所属系统：免疫系统遗传方式：XR<DIV class=hdwiki_tmml>疾病简介</DIV>严重联合免疫缺陷病(severecombinedimmunodeficiency,SCID)包括鶒一组遗传性疾病,可伴有B细胞分化异常健康搜索,也可不伴有B细胞分化异常如不给以造血干细胞移植则常于幼年夭折。本病的发生率估计为5万～10万个活产婴儿中有1例根据酶学、遗传学和免疫学特征,可将SCID分为不同类型。经典说法,包括：①网状组织发育不良(reticulardysgenesis),伴有淋巴样、髓样和红细胞样分化障碍；②无淋巴细胞血症(alymphocytosis)共同缺乏T和B细胞分化；③T淋巴细胞缺乏症(absenceofTlymphocytes)选择性T细胞分化阻滞鶒,X联或常染色体隐性遗传；④腺苷脱氨酶缺陷(adenosinedeaminaseADAdeficiency)等4型(表1)X-连锁严重联合免疫缺陷病(XL-SCID)属于T细胞缺陷,也是最常见的SCID,而B细胞无缺陷(T-B+)SCID。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：IL2RG  参考序列：NM_000206 染色体位置：Xq13 </DIV><DIV><TABLE class=table><TBODY><TR><TD> 突变ID</TD><TD> 突变位点</TD><TD> 突变类型</TD><TD>编码区位置 </TD><TD> 野生型</TD><TD>突变型 </TD><TD> 参考文献</TD></TR><TR><TD>1</TD><TD>IVS7+2T-G </TD><TD>S</TD><TD>IVS7 +2 T-G</TD><TD>T</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS7-1G-C </TD><TD>S</TD><TD>IVS7 -1 G-C</TD><TD>G</TD><TD>C</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS6+2T-C </TD><TD>S</TD><TD>IVS6 +2 T-C</TD><TD>T</TD><TD>C</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>IVS5-1G-C </TD><TD>S</TD><TD>IVS5 -1 G-C</TD><TD>G</TD><TD>C</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>IVS5+1G-T </TD><TD>S</TD><TD>IVS5 +1 G-T</TD><TD>G</TD><TD>T</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>IVS4+3G-T </TD><TD>S</TD><TD>IVS4 +3 G-T</TD><TD>G</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>IVS4-1G-C </TD><TD>S</TD><TD>IVS4 -1 G-C</TD><TD>G</TD><TD>C</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>IVS3+3A-C </TD><TD>S</TD><TD>IVS3 +3 A-C</TD><TD>A</TD><TD>C</TD><TD>[8]</TD></TR><TR><TD>9</TD><TD>IVS2+2T-C </TD><TD>S</TD><TD>IVS2 +2 T-C</TD><TD>T</TD><TD>C</TD><TD>[9]</TD></TR><TR><TD>10</TD><TD>M1V </TD><TD>M</TD><TD>1</TD><TD>A</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>11</TD><TD>W74G </TD><TD>M</TD><TD>220</TD><TD>T</TD><TD>G</TD><TD>[11]</TD></TR><TR><TD>12</TD><TD>C102Y </TD><TD>M</TD><TD>305</TD><TD>G</TD><TD>A</TD><TD>[12]</TD></TR><TR><TD>13</TD><TD>L132F </TD><TD>M</TD><TD>394</TD><TD>C</TD><TD>T</TD><TD>[11]</TD></TR><TR><TD>14</TD><TD>L162R </TD><TD>M</TD><TD>485</TD><TD>T</TD><TD>G</TD><TD>[11]</TD></TR><TR><TD>15</TD><TD>L172P </TD><TD>M</TD><TD>515</TD><TD>T</TD><TD>C</TD><TD>[13]</TD></TR><TR><TD>16</TD><TD>L172Q </TD><TD>M</TD><TD>515</TD><TD>T</TD><TD>A</TD><TD>[14]</TD></TR><TR><TD>17</TD><TD>Q188X </TD><TD>M</TD><TD>562</TD><TD>C</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>18</TD><TD>Y189X </TD><TD>M</TD><TD>567</TD><TD>C</TD><TD>A</TD><TD>[16]</TD></TR><TR><TD>19</TD><TD>W193X </TD><TD>M</TD><TD>579</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>20</TD><TD>Q216X </TD><TD>M</TD><TD>646</TD><TD>C</TD><TD>T</TD><TD>[18]</TD></TR><TR><TD>21</TD><TD>R224W </TD><TD>M</TD><TD>670</TD><TD>C</TD><TD>T</TD><TD>[19]</TD></TR><TR><TD>22</TD><TD>F227C </TD><TD>M</TD><TD>680</TD><TD>T</TD><TD>G</TD><TD>[20]</TD></TR><TR><TD>23</TD><TD>L230P </TD><TD>M</TD><TD>689</TD><TD>T</TD><TD>C</TD><TD>[21]</TD></TR><TR><TD>24</TD><TD>G232R </TD><TD>M</TD><TD>694</TD><TD>G</TD><TD>C</TD><TD>[22]</TD></TR><TR><TD>25</TD><TD>M270R </TD><TD>M</TD><TD>809</TD><TD>T</TD><TD>G</TD><TD>[23]</TD></TR><TR><TD>26</TD><TD>Q322X </TD><TD>M</TD><TD>964</TD><TD>C</TD><TD>T</TD><TD>[24]</TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV>本项目在美国已经开展多年，费用昂贵，约3000美元/人（单基因遗传病检测的均价），目前国内开展单基因疾病检测的机构及公司较少，价格比美国稍便宜，约1500美元/人，随着成本的下降，检测费用会更低。目前可以做单基因遗传病检测机构包括：<a href='http://www.jmdna.com' title='解码DNA分子医学检测中心'>解码DNA分子医学检测中心（上海）等基因检测机构</a><div><dl class=reference><dt>参考资料</dt><dd>[1].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL23RG mutations in h</dd><dd>[2].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL22RG mutations in h</dd><dd>[3].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL21RG mutations in h</dd><dd>[4].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL20RG mutations in h</dd><dd>[5].  Hum Genet. 2000 Oct;107(4):406-8.Characterization of the gammac chain among 33 unrelated Japanese pa</dd><dd>[6].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL18RG mutations in h</dd><dd>[7].  Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.Efficient detection of thirty-seven new IL19RG mutations in h</dd><dd>[8].  Hum Mutat. 2004 May;23(5):522-3.A novel splice-site mutation in the common gamma chain (gammac) gene</dd><dd>[9].  Hum Genet. 2000 Oct;107(4):406-8.Characterization of the gammac chain among 32 unrelated Japanese pa</dd><dd>[10].  Br J Haematol. 1999 Jul;106(1):190-4.Identification of X-linked severe combined immunodeficiency by </dd><dd>[11].  Br J Haematol. 1998 Jun;101(3):586-91.Mutation analysis by a non-radioactive single-strand conformat</dd><dd>[12].  Hum Genet. 1998 Dec;103(6):730-1.Mutations in the gene for the common gamma chain (gammac) in X-link</dd><dd>[13].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL6RG in human X-linked severe combined immuno</dd><dd>[14].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL5RG in human X-linked severe combined immuno</dd><dd>[15].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL7RG in human X-linked severe combined immuno</dd><dd>[16].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL8RG in human X-linked severe combined immuno</dd><dd>[17].  Hum Genet. 1997 May;99(5):628-37.Carrier and prenatal diagnosis of X-linked severe combined immunode</dd><dd>[18].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL9RG in human X-linked severe combined immuno</dd><dd>[19].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL10RG in human X-linked severe combined immun</dd><dd>[20].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL11RG in human X-linked severe combined immun</dd><dd>[21].  Hum Genet. 1997 May;99(5):628-38.Carrier and prenatal diagnosis of X-linked severe combined immunode</dd><dd>[22].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL12RG in human X-linked severe combined immun</dd><dd>[23].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL13RG in human X-linked severe combined immun</dd><dd>[24].  Blood. 1997 Mar 15;89(6):1968-77.Mutation analysis of IL14RG in human X-linked severe combined immun</dd></dl></div>

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