Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.

IF 1.1 4区医学 Q4 ALLERGY

Pediatric Allergy Immunology and Pulmonology Pub Date : 2024-03-01 DOI:10.1089/ped.2022.0206

Karina Mescouto de Melo, Fabíola Scancetti Tavares, Thales Silva Antunes, Antonio Condino-Neto, Gesmar Rodrigues Silva Segundo, Antônio Carlos Tanajura de Macedo, Alexandre Paz Ferreira, Cláudia França Cavalcante Valente

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引用次数: 0

Abstract

Background: Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in ∼50 patients, usually with onset at childhood with Bacille Calmette-Guérin (BCG) and Salmonella infections. Case Presentation: A male patient born to consanguineous parents was diagnosed with presumed lymph node MSMD at the age of 13 years after ocular symptoms. A positive history of inborn error of immunity was present: BCG reaction, skin abscess, and recurrent oral candidiasis. Abnormal measurements of cytokine levels, IL-12p40 and interferon-gamma (IFN-γ), lead to the diagnosis of MSMD. Genetic analysis showed a mutation in exon 7 of the IL12B gene. Currently, the patient is alive under prophylactic antibiotics. Conclusion: We report a rare case of IL-12p40 deficiency in a Latin American patient. Medical history was crucial for immune defect suspicion, as confirmed by precision diagnostic medicine tools.

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IL12B基因突变导致的常染色体隐性IL-12p40缺乏症：一名淋巴结分枝杆菌感染的巴西患者的报告

背景：常染色体隐性白细胞介素（IL）-12p40 缺乏症是孟德尔分枝杆菌病（MSMD）易感性的一种遗传病因。已有 50 ∼ 50 名患者描述过这种病，通常在儿童时期因卡介苗（Bacille Calmette-Guérin，BCG）和沙门氏菌感染而发病。病例介绍：患者为男性，父母为近亲结婚，13 岁时因出现眼部症状被诊断为淋巴结 MSMD。患者有先天性免疫错误的阳性病史：卡介苗反应、皮肤脓肿和复发性口腔念珠菌病。细胞因子 IL-12p40 和γ干扰素（IFN-γ）水平的异常测量结果导致了 MSMD 的诊断。基因分析显示，IL12B 基因的第 7 号外显子发生了突变。目前，患者在预防性抗生素的治疗下仍然存活。结论我们报告了一例罕见的拉丁美洲患者 IL-12p40 缺乏症。病史是怀疑免疫缺陷的关键，精准诊断医学工具也证实了这一点。

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

Pediatric Allergy Immunology and Pulmonology ALLERGY-IMMUNOLOGY

CiteScore

2.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Pediatric Allergy, Immunology, and Pulmonology is a peer-reviewed journal designed to promote understanding and advance the treatment of respiratory, allergic, and immunologic diseases in children. The Journal delivers original translational, clinical, and epidemiologic research on the most common chronic illnesses of children—asthma and allergies—as well as many less common and rare diseases. It emphasizes the developmental implications of the morphological, physiological, pharmacological, and sociological components of these problems, as well as the impact of disease processes on families. Pediatric Allergy, Immunology, and Pulmonology coverage includes: -Functional and genetic immune deficiencies- Interstitial lung diseases- Both common and rare respiratory, allergic, and immunologic diseases- Patient care- Patient education research- Public health policy- International health studies