作者
Amit Rawat, Pandiarajan Vignesh, Murugan Sudhakar, Madhubala Sharma, Deepti Suri, Ankur Jindal, Anju Gupta, Jitendra Kumar Shandilya, Sathish Kumar Loganathan, Gurjit Kaur, Sanchi Chawla, Pratap Kumar Patra, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Vaishali Aggarwal, Prasad Taur, Ambreen Pandrowala, Vijaya Gowri, Mukesh Desai, Manasi Kulkarni, Gauri Hule, Umair Bargir, Priyanka Kambli, Manisha Madkaikar, Sagar Bhattad, Chetan Ginigeri, Harish Kumar, Ananthvikas Jayaram, Deenadayalan Munirathnam, Meena Sivasankaran, Revathi Raj, Ramya Uppuluri, Fouzia Na, Biju George, Harsha Prasada Lashkari, Manas Kalra, Anupam Sachdeva, Shishir Seth, Tapas Sabui, Aman Gupta, Karin van Leeuwen, Martin de Boer, Koon Wing Chan, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Yu Lung Lau, Surjit Singh
发表日期
2021/2/25
期刊
Frontiers in immunology
卷号
12
页码范围
625320
出版商
Frontiers Media SA
简介
Background
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.
Objective
To describe infection patterns, immunological, and molecular features of CGD from multiple centers in India.
Methods
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.
Results
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%)—CYBB (44.7%) gene defect was most common, followed by NCF1 …
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A Rawat, P Vignesh, M Sudhakar, M Sharma, D Suri… - Frontiers in immunology, 2021