Allergy Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Bone Marrow Transplantation Unit, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Front Immunol. 2021 Feb 25;12:625320. doi: 10.3389/fimmu.2021.625320. eCollection 2021.
Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment. However, there is lack of multicentric collaborative data on CGD from India.
To describe infection patterns, immunological, and molecular features of CGD from multiple centers in India.
A detailed proforma that included clinical and laboratory details was prepared and sent to multiple centers in India that are involved in the care and management of patients with inborn errors of immunity. Twelve centers have provided data which were later pooled together and analyzed.
Of the 236 patients analyzed in our study, X-linked and AR-CGD was seen in 77 and 97, respectively. Male female ratio was 172:64. Median age at onset of symptoms and diagnosis was 8 and 24 months, respectively. Common infections documented include pneumonia (71.6%), lymphadenitis (31.6%), skin and subcutaneous abscess (23.7%), blood-stream infection (13.6%), osteomyelitis (8.6%), liver abscess (7.2%), lung abscess (2.9%), meningoencephalitis (2.5%), splenic abscess (1.7%), and brain abscess (0.9%). Forty-four patients (18.6%) had evidence of mycobacterial infection. Results of molecular assay were available for 141 patients (59.7%)- (44.7%) gene defect was most common, followed by (31.9%), (14.9%), and (8.5%). While variants were documented only in Southern and Western parts of India, a common dinucleotide deletion in (c.835_836delAC) was noted only in North Indian population. Of the 174 patients with available outcome data, 67 (38.5%) had expired. Hematopoietic stem cell transplantation was carried out in 23 patients, and 12 are doing well on follow-up.
In India, proportion of patients with AR-CGD is higher as compared to Western cohorts, though regional differences in types of AR-CGD exist. Clinical profile and mortality rates are similar in both X-linked and AR-CGD. However, this may be a reflection of the fact that milder forms of AR-CGD are probably being missed.
慢性肉芽肿病（CGD）是吞噬细胞呼吸爆发的遗传性缺陷，导致受影响儿童发生严重且危及生命的感染。来自印度的单中心研究表明，常染色体隐性（AR）CGD 的比例高于西方报道的比例。此外，由于转诊较晚和难以获得适当的治疗，受影响的患者死亡率很高。然而，印度缺乏 CGD 的多中心协作数据。
描述来自印度多个中心的 CGD 的感染模式、免疫学和分子特征。
准备了一份详细的表格，其中包括临床和实验室详细信息，并分发给参与管理和治疗先天性免疫缺陷患者的印度多个中心。有 12 个中心提供了数据，后来将这些数据汇总在一起进行分析。
在我们的研究中分析的 236 名患者中，X 连锁和 AR-CGD 分别为 77 名和 97 名。男女比例为 172:64。症状和诊断的中位年龄分别为 8 个月和 24 个月。记录的常见感染包括肺炎（71.6%）、淋巴结炎（31.6%）、皮肤和皮下脓肿（23.7%）、血流感染（13.6%）、骨髓炎（8.6%）、肝脓肿（7.2%）、肺脓肿（2.9%）、脑膜炎（2.5%）、脾脓肿（1.7%）和脑脓肿（0.9%）。44 名患者（18.6%）有分枝杆菌感染的证据。141 名患者（59.7%）的分子检测结果可用- 基因缺陷最常见（44.7%），其次是 （31.9%）、 （14.9%）和 （8.5%）。虽然 变异仅在印度南部和西部有记录，但在北印度人群中仅发现了 基因中常见的二核苷酸缺失（c.835_836delAC）。在 174 名有可用结局数据的患者中，67 名（38.5%）死亡。23 名患者接受了造血干细胞移植，其中 12 名在随访中情况良好。
在印度，AR-CGD 患者的比例高于西方队列，尽管 AR-CGD 的类型存在区域差异。X 连锁和 AR-CGD 的临床特征和死亡率相似。然而，这可能反映了这样一个事实，即可能错过了较轻形式的 AR-CGD。
