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白细胞介素-12缺乏症中斑丘疹皮疹的隐藏病因。

The Hidden Cause of Maculopapular Rash in Interleukin-12 Deficiency.

作者信息

Altamimi Abdullah M, Qadoumi Tala A, Alajroush Waleed, Alzomia Mohmmed A, Aljarbou Ohoud

机构信息

Dermatology, King Abdulaziz Medical City, Ministry of National Guard ‑ Health Affairs, Riyadh, SAU.

Dermatology, King Khalid University Hospital, Riyadh, SAU.

出版信息

Cureus. 2022 Jan 19;14(1):e21415. doi: 10.7759/cureus.21415. eCollection 2022 Jan.

DOI:10.7759/cureus.21415
PMID:35198320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8855683/
Abstract

Interleukin-12 RB1 (IL12RB1) deficiency falls under the Mendelian susceptibility to mycobacterial disease. It is a rare genetic disease with autosomal recessive inheritance. It is characterized by recurrent infections with otherwise weak bacteria, such as mycobacteria and . Often, when encountering a maculopapular eruption, a drug-related cause comes to mind. However, we report a case of IL12RB1 deficiency presenting with a maculopapular eruption, proven by a skin biopsy to be leukocytoclastic vasculitis. The patient was given antibiotics, which improved her skin lesions. Vasculitis should be considered in the differential diagnosis in patients with IL12RB1 deficiency presenting with a cutaneous eruption.

摘要

白细胞介素-12受体β1（IL12RB1）缺陷属于对分枝杆菌病的孟德尔易感性范畴。它是一种罕见的常染色体隐性遗传疾病。其特征为反复感染其他致病性较弱的细菌，如分枝杆菌等。通常，当遇到斑丘疹时，人们往往会想到药物相关原因。然而，我们报告了一例IL12RB1缺陷患者出现斑丘疹的病例，经皮肤活检证实为白细胞破碎性血管炎。该患者接受了抗生素治疗，皮肤病变有所改善。对于出现皮肤疹的IL12RB1缺陷患者，在鉴别诊断中应考虑血管炎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/c401f3499b29/cureus-0014-00000021415-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/b28981deef90/cureus-0014-00000021415-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/b08dbba27991/cureus-0014-00000021415-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/64c5b6f11a48/cureus-0014-00000021415-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/3682f74ab8fb/cureus-0014-00000021415-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/01d69136e1b8/cureus-0014-00000021415-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/c401f3499b29/cureus-0014-00000021415-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/b28981deef90/cureus-0014-00000021415-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/b08dbba27991/cureus-0014-00000021415-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/64c5b6f11a48/cureus-0014-00000021415-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/3682f74ab8fb/cureus-0014-00000021415-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/01d69136e1b8/cureus-0014-00000021415-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d43/8855683/c401f3499b29/cureus-0014-00000021415-i06.jpg

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本文引用的文献

1
Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.新型 IL-12Rβ1 缺陷介导复发性皮肤利什曼病。
Int J Infect Dis. 2021 Nov;112:338-345. doi: 10.1016/j.ijid.2021.08.049. Epub 2021 Aug 23.
2
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.白细胞碎裂性血管炎在 IL12B 或 IL12RB1 缺陷患者中的表现：病例报告及文献复习。
Pediatr Rheumatol Online J. 2021 Aug 13;19(1):121. doi: 10.1186/s12969-021-00623-0.
3
A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots.
日本利用干血斑诊断一名在伊拉克的叙利亚难民为 IL12RB1 缺陷病例。
Front Immunol. 2019 Jan 25;10:58. doi: 10.3389/fimmu.2019.00058. eCollection 2019.
4
Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.一名患有卡介苗淋巴结炎和口腔念珠菌病儿童的遗传性白细胞介素-12受体β1缺陷：病例报告
Pediatrics. 2017 Nov;140(5). doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.
5
Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency.一名白细胞介素-12受体β-1缺乏儿童因肠炎沙门氏菌引起的皮肤白细胞破碎性血管炎。
Pediatr Dermatol. 2014 Mar-Apr;31(2):236-40. doi: 10.1111/j.1525-1470.2012.01856.x. Epub 2012 Sep 25.
6
Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.白细胞介素-12 受体 β1 缺陷导致播散性球孢子菌病。
Clin Infect Dis. 2011 Feb 15;52(4):e99-e102. doi: 10.1093/cid/ciq215.
7
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.重新审视人类白细胞介素-12受体β1缺乏症：对来自30个国家的141例患者的调查
Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.
8
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.遗传性白细胞介素-12缺乏症：来自六个家族的13例患者的IL12B基因型和临床表型
Am J Hum Genet. 2002 Feb;70(2):336-48. doi: 10.1086/338625. Epub 2001 Dec 17.
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CD40 ligand/CD40 stimulation regulates the production of IFN-gamma from human peripheral blood mononuclear cells in an IL-12- and/or CD28-dependent manner.CD40配体/CD40刺激以白细胞介素-12和/或CD28依赖的方式调节人外周血单个核细胞中γ干扰素的产生。
J Immunol. 1998 Feb 15;160(4):1701-7.