Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

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%)-

Conclusions

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.

Informations de copyright

Copyright © 2021 Rawat, Vignesh, Sudhakar, Sharma, Suri, Jindal, Gupta, Shandilya, Loganathan, Kaur, Chawla, Patra, Khadwal, Saikia, Minz, Aggarwal, Taur, Pandrowala, Gowri, Desai, Kulkarni, Hule, Bargir, Kambli, Madkaikar, Bhattad, Ginigeri, Kumar, Jayaram, Munirathnam, Sivasankaran, Raj, Uppuluri, Na, George, Lashkari, Kalra, Sachdeva, Seth, Sabui, Gupta, van Leeuwen, de Boer, Chan, Imai, Ohara, Nonoyama, Lau and Singh.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.