Rapid publication Human nuclear factor kB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
Rapid publication Human nuclear factor kB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
复制标题
快速发表人类核因子kB必需调节剂突变可导致免疫缺陷但不伴有外胚层发育不良
DOI：
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
F. Bonilla
中科院分区：
文献类型：
--
作者：
J. Orange;O. Levy;S. Brodeur;Konrad;Krzewski;René M. Roy;J. Niemela;T. Fleisher;F. Bonilla
Background: Many receptors rely on the appropriate activation of nuclear factor (NF) kB to induce cellular function. This process depends critically on the phosphorylation of the inhibitor of NF-kB (IkB) by the IkB kinase. This targets IkB for ubiquitination and degradation, allowing NF-kB to translocate to the nucleus, where it can direct transcription. Hypomorphic human mutations affecting one IkB kinase component, the NF-kB essential modulator (NEMO), result in impaired signaling from receptors required for ectodermal development and immune function. Male subjects with these mutant NEMOmolecules have an X-linked syndrome known as ectodermal dysplasia with immunodeficiency, which is characterized by severe infections, with herpesviruses, bacteria, and mycobacterial susceptibility. Objective: We sought to genetically and biochemically characterize a patient with a mutant NEMO molecule without ectodermal abnormalities. Methods: We evaluated NEMO in a patient who had immunodeficiency and atypical mycobacterial infection but normal ectoderm. Results: We identified a novel NEMO mutant causing immunodeficiency without ectodermal dysplasia. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoetic origin and resulted in
携带致命突变的色素失禁男性患者的存活可以用体细胞嵌合或克兰费尔特综合征来解释。
影响因子：
9.8
作者：
Kenwrick,S;Woffendin,H;Jakins,T;Shuttleworth,SG;Mayer,E;Greenhalgh,L;Whittaker,J;Rugolotto,S;Bardaro,T;Esposito,T;D'Urso,M;Soli,F;Turco,A;Smahi,A;Hamel-Teillac,D;Lyonnet,S;Bonnefont,JP;Munnich,A;Aradhya,S;Kashork,C
通讯作者：
Kashork,C
影响因子：
9.8
作者：
Aradhya, S;Courtois, G;Nelson, DL
通讯作者：
Nelson, DL
影响因子：
9.8
作者：
Zonana, J;Elder, ME;Ferguson, BM
通讯作者：
Ferguson, BM