Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Objectives To study the incidence, clinical manifestations, and genetic spectrum of primary immunodefciency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. Methods A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID. Serum immunoglobulin levels and other targeted investigations were performed as warranted by the clinical presentation. All families with suspected PID were counseled and ofered genetic testing. Results A total of 225 children were evaluated for PID during the study period of 6 y. Fifty-six of them did not meet the European Society of Immunodefciencies (ESID) criteria (working defnition of clinical diagnosis) and were excluded. An IEI was found in 30/49 (61.2%) patients. The most frequent reason for referral was recurrent/unusual or serious infections (28%), or cytopenia (16%). Group IV diseases of immune dysregulation was the most common category (19%), followed by group III predominant antibody defciencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classifcation. Conclusions This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and eforts to provide optimal care for children with possible IEI in this center.

Keywords

Primary immunodefciency diseases (PID), Inborn errors of immunity (IEI), Immune dysregulation, Severe combined immunodefciency (SCID), Agammaglobulinemia

Citation

Lashkari Harsha Prasada, Madkaikar Manisha, Dalvi Aparna, Gupta Maya, Bustamante Jacinta, Sharma Madhubala, Rawat Amit, Bhatia Prateek, Bhat Kamalakshi G., Rao Sadashiva, Kamath Nutan, Moideen Faheem, Latour Sylvain, Winter Sarah, Bhavani Gandham SriLakshmi, Girisha Katta M.. Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India. Indian Journal of Pediatrics. 2022 Mar; 89(3): 233–242

URI

https://imsear.searo.who.int/handle/123456789/223765

Collections

Indian Journal of Pediatrics

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