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Anhidrotic ectodermal dysplasia associated with specific antibody deficiency.

作者信息

Abinun M, Spickett G, Appleton A L, Flood T, Cant A J

出版信息

Eur J Pediatr. 1996 Feb;155(2):146-7. doi: 10.1007/BF02075774.

DOI:10.1007/BF02075774
PMID:8775234
Abstract
摘要

相似文献

1
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency.与特异性抗体缺陷相关的无汗性外胚层发育不良
Eur J Pediatr. 1996 Feb;155(2):146-7. doi: 10.1007/BF02075774.
2
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.一名患有无汗性外胚层发育不良伴免疫缺陷的儿童成功进行了异基因造血干细胞移植。
Pediatrics. 2006 Jul;118(1):e205-11. doi: 10.1542/peds.2005-2661. Epub 2006 Jun 12.
3
[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers].[外胚层发育不良中的多糖特异性体液免疫缺陷。一名有两个患病兄弟的男孩的病例报告]
Klin Padiatr. 1999 Nov-Dec;211(6):459-61. doi: 10.1055/s-2008-1043834.
4
Anhidrotic ectodermal dysplasia with transient hypogammaglobulinemia.
Cutis. 1981 Oct;28(4):417-9, 419.
5
The frequency of IgG subclass deficiency in children with recurrent respiratory infections.复发性呼吸道感染儿童中IgG亚类缺陷的发生率。
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6
Cellular immunodeficiency in anhidrotic ectodermal dysplasia.
Acta Derm Venereol. 1976;56(2):115-20.
7
Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature.
Clin Immunol Immunopathol. 1994 Apr;71(1):44-52. doi: 10.1006/clin.1994.1050.
8
[Anhidrotic ectodermal dysplasia in three brothers].
Vestn Dermatol Venerol. 1988(6):25-8.
9
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.无汗性外胚层发育不良与免疫缺陷：核因子κB 必需调节蛋白的作用
Arch Dis Child. 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340.
10
[Anhidrotic ectodermal dysplasia and Incontinentia pigmenti: pieces of the same puzzle].
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Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.一名无色素失禁症女性携带者中NEMO功能的部分丧失
J Clin Med. 2025 Jan 9;14(2):363. doi: 10.3390/jcm14020363.
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Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.人类IκBα功能获得：一种严重的综合征性免疫缺陷。
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3
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.X 连锁孟德尔易感性分枝杆菌病的遗传学教训。

本文引用的文献

1
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome).四名患有缺指（趾）-外胚层发育不良-腭裂综合征（EEC综合征）患者的正常免疫状态。
Clin Genet. 1993 Mar;43(3):146-9. doi: 10.1111/j.1399-0004.1993.tb04440.x.
2
New and old immunodeficiencies.新的和旧的免疫缺陷。
Pediatr Res. 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007.
3
Anti-capsular polysaccharide antibody deficiency states.抗荚膜多糖抗体缺乏状态。
Ann N Y Acad Sci. 2011 Dec;1246:92-101. doi: 10.1111/j.1749-6632.2011.06273.x.
4
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.
5
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.
6
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。
Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15.
7
X-linked immunodeficiencies.X连锁免疫缺陷病
Curr Allergy Asthma Rep. 2004 Sep;4(5):339-48. doi: 10.1007/s11882-004-0082-5.
8
Infections in patients with inherited defects in phagocytic function.吞噬功能存在遗传性缺陷患者的感染情况。
Clin Microbiol Rev. 2003 Oct;16(4):597-621. doi: 10.1128/CMR.16.4.597-621.2003.
9
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.IKK-γ/NEMO突变患者的自然杀伤细胞细胞毒性缺陷。
J Clin Invest. 2002 Jun;109(11):1501-9. doi: 10.1172/JCI14858.
10
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.
Immunodeficiency. 1993;5(1):1-21.
4
Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature.
Clin Immunol Immunopathol. 1994 Apr;71(1):44-52. doi: 10.1006/clin.1994.1050.
5
Ectodermal dysplasia.外胚层发育不良
Arch Dis Child. 1994 Jul;71(1):1-2. doi: 10.1136/adc.71.1.1.
6
Primary immunodeficiency diseases. Report of a WHO Scientific Group.原发性免疫缺陷病。世界卫生组织科学小组报告。
Clin Exp Immunol. 1995 Jan;99 Suppl 1(Suppl 1):1-24.