对分枝杆菌孟德尔易感性患儿8年随访经验及文献回顾

IF 2.3 4区 医学 Q3 ALLERGY
Elif Azarsiz, Neslihan Karaca, Emin Karaca, Guzide Aksu, Ferah Genel, Nesrin Gulez, Selime Ozen, Necil Kutukculer
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引用次数: 2

摘要

背景:分枝杆菌病孟德尔易感性(MSMD)是一种罕见的原发性免疫缺陷,由非结核分枝杆菌或卡介苗引起,以儿童期严重疾病为特征。目的:在本研究中,我们对12例遗传证实的MSMD的土耳其儿童进行了8年的随访,我们试图评估成功治疗的生存率、亲属率、患者的分子、细胞和临床特征。此外,我们希望强调在常规使用卡介苗的国家在接种卡介苗前进行早期诊断的重要性。方法:纳入12例诊断为分子研究的患者[IFNγR1完整(n = 1), IFNγR2部分(n = 3), IL12Rβ1 (n = 6), NEMO (n = 1), STAT1突变(n = 1)]。结果:10例(83%)为近亲出生,有原发性免疫缺陷家族史的占58% (n = 7)。由于早期诊断不足,所有病例均接种过卡介苗(牛分枝杆菌)。2例出现BCG-itis, 4例出现BCG-osis。在使用抗生素、抗结核药物和重组IFN-γ成功治疗疾病后,生存率为75%。结论:MSMD必须与不同形式的原发性免疫缺陷进行区分,因此临床医生应注意MSMD,特别是在卡介苗并发症和非结核性分枝杆菌感染患者中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature.

Background: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, caused by non-tuberculous mycobacteria or Bacillus Calmette-Guerin (BCG) vaccine and characterized by severe diseases in childhood.

Objective: In this study, we examined eight years followed-up 12 Turkish children with genetically proven MSMD and we tried to evaluate the survival rate with succesfull disease management, rate of consanguinity, molecular, cellular and clinical features of patients. In addition, we wanted to emphasize the importance of early diagnosis before administration of BCG vaccine in countries where this vaccine is routinely used.

Methods: Twelve patients diagnosed with molecular studies [IFNγR1 complete (n = 1), IFNγR2 partial (n = 3), IL12Rβ1 (n = 6), NEMO (n = 1), STAT1 mutation (n = 1)] were included.

Results: Ten patients (83%) were born from consanguineous parents and frequency of family history for the primary immunodeficiency was 58% (n = 7). All the cases had been immunized with BCG vaccine (Mycobacterium bovis) due to lack of early diagnosis. Two patients had BCG-itis and four patients had "BCG-osis". Survival rate was 75% after successful disease management with antibiotics, anti-tuberculous agents and recombinant IFN-γ.

Conclusions: It was concluded that MSMD must be differentiated from different forms of primary immunodeficiencies, so clinicians should be aware of MSMD especially in patients with BCG vaccine complications and non-tuberculous mycobacterial infection.

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来源期刊
CiteScore
12.80
自引率
0.00%
发文量
74
审稿时长
>12 weeks
期刊介绍: The Asian Pacific Journal of Allergy and Immunology (APJAI) is an online open access journal with the recent impact factor (2018) 1.747 APJAI published 4 times per annum (March, June, September, December). Four issues constitute one volume. APJAI publishes original research articles of basic science, clinical science and reviews on various aspects of allergy and immunology. This journal is an official journal of and published by the Allergy, Asthma and Immunology Association, Thailand. The scopes include mechanism, pathogenesis, host-pathogen interaction, host-environment interaction, allergic diseases, immune-mediated diseases, epidemiology, diagnosis, treatment and prevention, immunotherapy, and vaccine. All papers are published in English and are refereed to international standards.
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