Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Background

There is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.

Methods

Data on XLA from all regional centers supported by the Foundation for Primary Immunodeficiency Diseases (FPID), USA and other institutions providing care to patients with PIDs were collated. Diagnosis of XLA was based on European Society for Immunodeficiencies (ESID) criteria.

Results

We received clinical details of 195 patients with a provisional diagnosis of XLA from 12 centers. At final analysis, 145 patients were included (137 'definite XLA' and eight 'probable/possible XLA'). Median age at onset of symptoms was 12.0 (6.0, 36.0) months and median age at diagnosis was 60.0 (31.5, 108) months. Pneumonia was the commonest clinical manifestation (82.6%) followed by otitis media (50%) and diarrhea (42%). Arthritis was seen in 26% patients while 23% patients developed meningitis. Bronchiectasis was seen in 10% and encephalitis (likely viral) in 4.8% patients.

Conclusion

There was a significant delay in the diagnosis and facilities for molecular diagnosis were not available at many centers. Optimal immunoglobulin replacement is still a challenge.

Informations de copyright

Copyright © 2021 Rawat, Jindal, Suri, Vignesh, Gupta, Saikia, Minz, Banday, Tyagi, Arora, Joshi, Mondal, Shandilya, Sharma, Desai, Taur, Pandrowala, Gowri, Sawant-Desai, Gupta, Dalvi, Madkaikar, Aggarwal, Raj, Uppuluri, Bhattad, Jayaram, Lashkari, Rajasekhar, Munirathnam, Kalra, Shukla, Saka, Sharma, Garg, Imai, Nonoyama, Ohara, Lee, Chan, 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.