TY - JOUR
T1 - Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India
AU - Lashkari, Harsha Prasada
AU - Madkaikar, Manisha
AU - Dalvi, Aparna
AU - Gupta, Maya
AU - Bustamante, Jacinta
AU - Sharma, Madhubala
AU - Rawat, Amit
AU - Bhatia, Prateek
AU - Bhat, Kamalakshi G.
AU - Rao, Sadashiva
AU - Kamath, Nutan
AU - Moideen, Faheem
AU - Latour, Sylvain
AU - Winter, Sarah
AU - Bhavani, Gandham Sri Lakshmi
AU - Girisha, Katta M.
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021
Y1 - 2021
N2 - Objectives: To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency 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 offered 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 Immunodeficiencies (ESID) criteria (working definition 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 deficiencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classification. Conclusions: This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and efforts to provide optimal care for children with possible IEI in this center.
AB - Objectives: To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency 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 offered 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 Immunodeficiencies (ESID) criteria (working definition 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 deficiencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classification. Conclusions: This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and efforts to provide optimal care for children with possible IEI in this center.
UR - http://www.scopus.com/inward/record.url?scp=85119966872&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85119966872&partnerID=8YFLogxK
U2 - 10.1007/s12098-021-03936-w
DO - 10.1007/s12098-021-03936-w
M3 - Article
AN - SCOPUS:85119966872
SN - 0972-9607
VL - 89
SP - 233
EP - 242
JO - Indian Journal of Practical Pediatrics
JF - Indian Journal of Practical Pediatrics
IS - 3
ER -