白细胞介素-12受体β1链完全缺乏：三名具有不同寻常临床特征的土耳其无关儿童。 - Suppr

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

作者信息

Tanir Gonul, Dogu Figen, Tuygun Nilden, Ikinciogullari Aydan, Aytekin Caner, Aydemir Cumhur, Yuksek Mutlu, Boduroglu Esin Cengiz, de Beaucoudrey Ludovic, Fieschi Claire, Feinberg Jacqueline, Casanova Jean-Laurent, Babacan Emel

机构信息

Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey.

出版信息

Eur J Pediatr. 2006 Jun;165(6):415-7. doi: 10.1007/s00431-005-0078-8. Epub 2006 Feb 24.

DOI:10.1007/s00431-005-0078-8

PMID:16501992

Abstract

摘要

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Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.白细胞介素-12受体β1链完全缺乏：三名具有不同寻常临床特征的土耳其无关儿童。

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本文引用的文献

Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor.一名白细胞介素（IL）-12/IL-23受体β1亚基遗传性缺陷患者的巴西副球孢子菌播散性疾病。

Clin Infect Dis. 2005 Aug 15;41(4):e31-7. doi: 10.1086/432119. Epub 2005 Jul 15.

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.一名播散性肺结核患儿的白细胞介素-12受体β1链缺陷

Clin Infect Dis. 2005 Mar 15;40(6):e55-8. doi: 10.1086/427879. Epub 2005 Feb 17.

The human model: a genetic dissection of immunity to infection in natural conditions.人类模型：对自然条件下感染免疫的基因剖析。

Nat Rev Immunol. 2004 Jan;4(1):55-66. doi: 10.1038/nri1264.

The role of interleukin-12 in human infectious diseases: only a faint signature.白细胞介素-12在人类传染病中的作用：仅有微弱迹象。

Eur J Immunol. 2003 Jun;33(6):1461-4. doi: 10.1002/eji.200324038.

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.白细胞介素12受体β1缺乏症的低外显率、广泛抗性及良好预后：医学与免疫学意义

J Exp Med. 2003 Feb 17;197(4):527-35. doi: 10.1084/jem.20021769.

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.人类白细胞介素-12受体缺陷导致分枝杆菌免疫受损。

Science. 1998 May 29;280(5368):1432-5. doi: 10.1126/science.280.5368.1432.

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Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

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