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与甘露糖结合凝集素缺乏相关的无汗性外胚层发育不良

[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency].

作者信息

Delgado Pecellín I, Castillo Reguera Y, Delgado Pecellín C, Bueno Delgado M A, González Valencia J P, Obando Santaella I, Neth O

机构信息

Unidad de Neumología y Alergia, Hospital Infantil Virgen del Rocío, Sevilla, España.

出版信息

An Pediatr (Barc). 2012 Jul;77(1):43-6. doi: 10.1016/j.anpedi.2012.02.010. Epub 2012 Apr 1.

DOI:10.1016/j.anpedi.2012.02.010
PMID:22472699
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7185849/
Abstract

Mannose-binding lectin (MBL) is a serum protein of the innate immune system. MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens. MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia.

摘要

甘露糖结合凝集素（MBL）是先天性免疫系统的一种血清蛋白。MBL通过与多种病原体表达的碳水化合物结合来增强调理吞噬作用。MBL缺乏是由于MBL2基因的结构和启动子序列多态性所致，与多种反复感染相关，包括呼吸道感染。我们报告了一例与严重甘露糖结合凝集素缺乏相关的无汗性外胚层发育不良病例，这在无汗性外胚层发育不良患者中从未有过描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6793/7185849/54604bf1e4dc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6793/7185849/5e273d1d1d2e/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6793/7185849/54604bf1e4dc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6793/7185849/5e273d1d1d2e/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6793/7185849/54604bf1e4dc/gr2.jpg

相似文献

[1]
[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency].

An Pediatr (Barc). 2012-7

[2]
Mannose-binding lectin deficiency and respiratory tract infection.

J Innate Immun. 2009-7-7

[3]
Deficient serum mannose-binding lectin levels and MBL2 polymorphisms increase the risk of single and recurrent Cryptosporidium infections in young children.

J Infect Dis. 2009-11-15

[4]
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Ann Otol Rhinol Laryngol. 2015-2

[5]
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Hum Immunol. 2016-7

[6]
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Pediatr Pulmonol. 2019-4-22

[7]
Mannose-binding Lectin Deficiency in Patients with a History of Recurrent Infections.

Iran J Allergy Asthma Immunol. 2016-2

[8]
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children.

Pediatr Pulmonol. 2020-3-2

[9]
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Respirology. 2015-8

[10]
Impact of mannose-binding lectin on susceptibility to infectious diseases.

Clin Infect Dis. 2003-12-1

本文引用的文献

[1]
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Australas J Dermatol. 2010-8-24

[2]
Ectodermal dysplasia with hydrocephalus: a rare association.

Singapore Med J. 2010-12

[3]
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Hum Mutat. 2011-1

[4]
Implant rehabilitation in grafted and native bone in patients affected by ectodermal dysplasia: evaluation of 78 implants inserted in 8 patients.

Implant Dent. 2010-10

[5]
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Am J Hum Genet. 2010-8-13

[6]
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.

Early Hum Dev. 2010-6-1

[7]
Ectodermal dysplasia with anodontia: a report of two cases.

Eur J Dent. 2010-4

[8]
Mannose-binding lectin deficiency and respiratory tract infection.

J Innate Immun. 2009-7-7

[9]
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clin Genet. 2010-2-24

[10]
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Br J Dermatol. 2010-3-5

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