Recurrent Visceral Leishmaniasis in a Case With Interleukin-12 Receptor Beta-1 Deficiency.

IF 1.2 3区农林科学 Q4 PARASITOLOGY

Acta Parasitologica Pub Date : 2024-10-10 DOI:10.1007/s11686-024-00926-8

Hatice Uygun, Ayse Ceyda Oren, Esra Pekpak Sahinoglu, Sinan Akbayram

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Abstract

Purpose: In this study, we present the case of a children who was followed up for recurrent visceral leishmaniasis and diagnosed with IL-12Rβ1 deficiency.

Methods: A female patient who received Bacille Calmette-Guérin (BCG) vaccine 2 months after birth and developed visceral leishmaniasis at the age of 91 months was subsequently diagnosed with IL-12Rβ1 deficiency. The patient's diagnosis and treatment process were examined retrospectively.

Results: IL-12Rβ1 deficiency is an autosomal recessive disease characterized by susceptibility to recurrent and/or severe infections caused by weakly pathogenic mycobacteria and salmonella. Infections with other intramacrophagic organisms may also occur, although rarely. Based on this information, it is believed that the mutation in the IFN-γ/IL-12 axis in our patient predisposed her to recurrent Leishmania infections.

Conclusion: This study adds to the limited literature on IL12RB1 deficiency as a cause of VL. Patients diagnosed with VL should be evaluated immunologically, as recurrent Leishmania infections may occur in those with IL-12Rβ1 defects.

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白细胞介素-12 受体 Beta-1 缺乏症病例中的复发性内脏利什曼病

目的：在本研究中，我们介绍了一例因内脏利什曼病反复发作而接受随访并被诊断为 IL-12Rβ1 缺乏症的儿童病例：一名在出生后 2 个月接种卡介苗（BCG）的女性患者在 91 个月大时患上了内脏利什曼病，随后被诊断为 IL-12Rβ1 缺乏症。我们对患者的诊断和治疗过程进行了回顾性研究：IL-12Rβ1缺乏症是一种常染色体隐性遗传病，其特征是容易受到由弱致病性分枝杆菌和沙门氏菌引起的反复和/或严重感染。也可能会感染其他噬菌体，但很少发生。基于这些信息，我们认为患者的 IFN-γ/IL-12 轴突变导致她容易反复感染利什曼原虫：本研究为有关 IL12RB1 缺乏是 VL 病因的有限文献增添了新的内容。诊断为VL的患者应进行免疫学评估，因为存在IL-12Rβ1缺陷的患者可能会发生复发性利什曼原虫感染。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta Parasitologica 医学-寄生虫学

CiteScore

3.10

自引率

6.70%

发文量

149

审稿时长

6-12 weeks

期刊介绍： Acta Parasitologica is an international journal covering the latest advances in the subject. Acta Parasitologica publishes original papers on all aspects of parasitology and host-parasite relationships, including the latest discoveries in biochemical and molecular biology of parasites, their physiology, morphology, taxonomy and ecology, as well as original research papers on immunology, pathology, and epidemiology of parasitic diseases in the context of medical, veterinary and biological sciences. The journal also publishes short research notes, invited review articles, book reviews. The journal was founded in 1953 as "Acta Parasitologica Polonica" by the Polish Parasitological Society and since 1954 has been published by W. Stefanski Institute of Parasitology of the Polish Academy of Sciences in Warsaw. Since 1992 in has appeared as Acta Parasitologica in four issues per year.