Abstract：
Summarize the characteristics of a large cohort of BCG disease and compare differences in clinical characteristics and outcomes among different genotypes and between primary immunodeficiency disease (PID) and patients without identified genetic etiology.
We collected information on patients with BCG disease in our center from January 2015 to December 2020 and divided them into four groups: chronic granulomatous disease (CGD), Mendelian susceptibility to mycobacterial disease (MSMD), severe combined immunodeficiency disease (SCID), and gene negative group.
A total of 134 patients were reviewed, and most of them had PID. A total of 111 (82.8%) patients had 18 different types of pathogenic gene mutations, most of whom (91.0%) were classified with CGD, MSMD, and SCID. CYBB was the most common gene mutation (52/111). BCG disease behaves differently in individuals with different PIDs. Significant differences in sex (P < 0.001), age at diagnosis (P = 0.013), frequency of recurrent fever (P = 0.007), and vaccination-homolateral axillary lymph node enlargement (P = 0.039) and infection severity (P = 0.006) were noted among the four groups. The CGD group had the highest rate of males and the oldest age at diagnosis. The MSMD group had the highest probability of disseminated infection (48.3%). The course of anti-tuberculosis treatment and the survival time between patients with PID and without identified genetic etiology were similar.
Greater than 80% of BCG patients have PID; accordingly, gene sequencing should be performed in patients with BCG disease for early diagnosis. BCG disease behaves differently in patients with different types of PID. Patients without identified genetic etiology had similar outcomes to PID patients, which hints that they may have pathogenic gene mutations that need to be discovered.
We collected information on patients with BCG disease in our center from January 2015 to December 2020 and divided them into four groups: chronic granulomatous disease (CGD), Mendelian susceptibility to mycobacterial disease (MSMD), severe combined immunodeficiency disease (SCID), and gene negative group.
A total of 134 patients were reviewed, and most of them had PID. A total of 111 (82.8%) patients had 18 different types of pathogenic gene mutations, most of whom (91.0%) were classified with CGD, MSMD, and SCID. CYBB was the most common gene mutation (52/111). BCG disease behaves differently in individuals with different PIDs. Significant differences in sex (P < 0.001), age at diagnosis (P = 0.013), frequency of recurrent fever (P = 0.007), and vaccination-homolateral axillary lymph node enlargement (P = 0.039) and infection severity (P = 0.006) were noted among the four groups. The CGD group had the highest rate of males and the oldest age at diagnosis. The MSMD group had the highest probability of disseminated infection (48.3%). The course of anti-tuberculosis treatment and the survival time between patients with PID and without identified genetic etiology were similar.
Greater than 80% of BCG patients have PID; accordingly, gene sequencing should be performed in patients with BCG disease for early diagnosis. BCG disease behaves differently in patients with different types of PID. Patients without identified genetic etiology had similar outcomes to PID patients, which hints that they may have pathogenic gene mutations that need to be discovered.
摘要：
目的：总结一个大型卡介苗疾病队列的特征，比较不同基因型之间以及原发性免疫缺陷病（PID）与未明确遗传病因患者之间临床特征和结局的差异。
方法：我们收集了2015年1月至2020年12月在我们中心的卡介苗病患者的信息，并将其分为四组：慢性肉芽肿病（CGD），孟德尔对分枝杆菌病（MSMD）的易感性，严重联合免疫缺陷病（SCID），和基因阴性组。
结果：共对134例患者进行了回顾，他们中的大多数都有PID。共111例(82.8%)患者有18种不同类型的致病基因突变,其中大多数(91.0%)被归类为CGD，MSMD,SCID。CYBB是最常见的基因突变(52/111)。BCG疾病在具有不同PID的个体中表现不同。性别差异显著(P<0.001),诊断年龄（P=0.013），反复发热的频率（P=0.007），在四组中，疫苗接种-同侧腋窝淋巴结肿大（P=0.039）和感染严重程度（P=0.006）。CGD组的男性比率最高，诊断年龄最大。MSMD组传播感染的概率最高(48.3%)。患有PID和未发现遗传病因的患者的抗结核治疗过程和生存时间相似。
结论：超过80％的卡介苗患者患有PID；因此，BCG病患者应进行基因测序,以便早期诊断.BCG疾病在不同类型的PID患者中表现不同。没有确定遗传病因的患者与PID患者有相似的结果，这暗示他们可能有需要发现的致病基因突变。
方法：我们收集了2015年1月至2020年12月在我们中心的卡介苗病患者的信息，并将其分为四组：慢性肉芽肿病（CGD），孟德尔对分枝杆菌病（MSMD）的易感性，严重联合免疫缺陷病（SCID），和基因阴性组。
结果：共对134例患者进行了回顾，他们中的大多数都有PID。共111例(82.8%)患者有18种不同类型的致病基因突变,其中大多数(91.0%)被归类为CGD，MSMD,SCID。CYBB是最常见的基因突变(52/111)。BCG疾病在具有不同PID的个体中表现不同。性别差异显著(P<0.001),诊断年龄（P=0.013），反复发热的频率（P=0.007），在四组中，疫苗接种-同侧腋窝淋巴结肿大（P=0.039）和感染严重程度（P=0.006）。CGD组的男性比率最高，诊断年龄最大。MSMD组传播感染的概率最高(48.3%)。患有PID和未发现遗传病因的患者的抗结核治疗过程和生存时间相似。
结论：超过80％的卡介苗患者患有PID；因此，BCG病患者应进行基因测序,以便早期诊断.BCG疾病在不同类型的PID患者中表现不同。没有确定遗传病因的患者与PID患者有相似的结果，这暗示他们可能有需要发现的致病基因突变。
