Uygun Hatice, Oren Ayse Ceyda, Sahinoglu Esra Pekpak, Akbayram Sinan
Department of Pediatric Infectious Disease, Gaziantep University School of Medicine, Gaziantep, Turkey.
Department of Pediatric Hematology and Oncology, Gaziantep Liv Hospital, Gaziantep, Turkey.
Acta Parasitol. 2024 Dec;69(4):2069-2072. doi: 10.1007/s11686-024-00926-8. Epub 2024 Oct 10.
In this study, we present the case of a children who was followed up for recurrent visceral leishmaniasis and diagnosed with IL-12Rβ1 deficiency.
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.
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.
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.
在本研究中，我们报告了一例因复发性内脏利什曼病接受随访并被诊断为白细胞介素12受体β1（IL-12Rβ1）缺陷的儿童病例。
一名女性患者出生后2个月接种了卡介苗（BCG），91个月大时患内脏利什曼病，随后被诊断为IL-12Rβ1缺陷。对该患者的诊断和治疗过程进行回顾性研究。
IL-12Rβ1缺陷是一种常染色体隐性疾病，其特征是易受致病性较弱的分枝杆菌和沙门氏菌引起的复发性和/或严重感染。虽然很少见，但也可能发生由其他巨噬细胞内病原体引起的感染。基于这些信息，据信我们患者的干扰素-γ/白细胞介素-12轴突变使她易患复发性利什曼原虫感染。
本研究增加了关于IL12RB1缺陷作为内脏利什曼病病因的有限文献。被诊断为内脏利什曼病的患者应进行免疫学评估，因为IL-12Rβ1缺陷者可能会发生复发性利什曼原虫感染。
