A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).
作者信息
Johnston Alicia M, Niemela Julie, Rosenzweig Sergio D, Fried Ari J, Delmonte Ottavia Maria, Fleisher Thomas A, Kuehn Hyesun
机构信息
Department of Pediatrics, Baystate Medical Center Children's Hospital, Springfield, MA, USA.
Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
出版信息
J Clin Immunol. 2016 Aug;36(6):541-3. doi: 10.1007/s10875-016-0309-y. Epub 2016 Jul 2.
Abstract
摘要
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本文引用的文献
1
Deficiency of innate and acquired immunity caused by an IKBKB mutation.IKBKB 基因突变导致的固有免疫和获得性免疫缺陷。
N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199.
2
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.
3
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.人类核因子κB必需调节因子突变可导致免疫缺陷而无外胚层发育异常。
J Allergy Clin Immunol. 2004 Sep;114(3):650-6. doi: 10.1016/j.jaci.2004.06.052.
4
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.一种超显性IκBα突变与常染色体显性无汗性外胚层发育不良和T细胞免疫缺陷相关。
J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714.
5
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.X连锁无汗性外胚层发育不良伴免疫缺陷由NF-κB信号传导受损引起。
Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837.
6
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.
7
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.
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