Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
作者信息
Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N
出版信息
Am J Hum Genet. 2001 Sep;69(3):664-6. doi: 10.1086/323003.
Abstract
摘要
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1
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).女性患者表现为少汗型外胚层发育不良和免疫缺陷（HED-ID）。
Am J Hum Genet. 2001 Sep;69(3):664-6. doi: 10.1086/323003.
2
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).一种新型的X连锁免疫缺陷和少汗型外胚层发育不良疾病与色素失禁症等位，且由IKK-γ（NEMO）基因突变引起。
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NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.NEMO 是 NF-κB 和 IRF-3 依赖性 TLR3 介导的抗单纯疱疹病毒免疫反应的关键组成部分。
J Allergy Clin Immunol. 2011 Sep;128(3):610-7.e1-4. doi: 10.1016/j.jaci.2011.04.059. Epub 2011 Jul 1.
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Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.低表达核因子-κB必需调节子突变数据库及重组系统鉴定表型和免疫多样性。
J Allergy Clin Immunol. 2008 Dec;122(6):1169-1177.e16. doi: 10.1016/j.jaci.2008.08.018. Epub 2008 Oct 11.
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The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.由于翻译重新起始，产生最上游过早终止密码子的NEMO突变是亚效等位的。
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A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.NEMO基因第7外显子的一个新突变：一名患有免疫缺陷的色素失禁症女性患者中晚期偏态X染色体失活
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本文引用的文献
1
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).男性个体中色素失禁症的非典型形式是由NEMO（IKK-γ）第10外显子中胞嘧啶序列的突变引起的。
Am J Hum Genet. 2001 Mar;68(3):765-71. doi: 10.1086/318806. Epub 2001 Feb 8.
2
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).一种新型的X连锁免疫缺陷和少汗型外胚层发育不良疾病与色素失禁症等位，且由IKK-γ（NEMO）基因突变引起。
Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24.
3
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.NEMO基因重排会损害核因子-κB激活，是色素失禁症的一个病因。国际色素失禁症（IP）协会。
Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114.
4
Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.对2型色素失禁症患者血液白细胞中突变等位基因的选择是一个持续存在的特征。
Hum Mol Genet. 1996 Nov;5(11):1777-83. doi: 10.1093/hmg/5.11.1777.
5
Incontinentia pigmenti (Bloch-Sulzberger syndrome).色素失禁症（布洛赫-苏尔茨贝格综合征）。
J Med Genet. 1993 Jan;30(1):53-9. doi: 10.1136/jmg.30.1.53.
6
Familial linear and whorled nevoid hypermelanosis.家族性线状和涡状痣样黑素沉着症。
J Am Acad Dermatol. 1994 May;30(5 Pt 2):831-3. doi: 10.1016/s0190-9622(94)70090-7.
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