Lashkari, Harsha PrasadaMadkaikar, ManishaDalvi, AparnaGupta, MayaBustamante, JacintaSharma, MadhubalaRawat, AmitBhatia, PrateekBhat, Kamalakshi G.Rao, SadashivaKamath, NutanMoideen, FaheemLatour, SylvainWinter, SarahBhavani, Gandham SriLakshmiGirisha, Katta M.2023-08-192023-08-192022-03Lashkari 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): 233–2420973-76930019-5456http://imsear.searo.who.int/handle/123456789/223765Objectives 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.Primary immunodefciency diseases (PID)Inborn errors of immunity (IEI)Immune dysregulationSevere combined immunodefciency (SCID)AgammaglobulinemiaJournal ArticleIndiaDepartment of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575001, IndiaICMR-National Institute of Immunohematology, KEM Hospital, Parel, Mumbai, Maharashtra, IndiaGénétique Humaine Des Maladies Infectieuses/Human Genetics of Infectious Diseases, INSERM UMR 1163, Université de Paris, Institut Imagine, Paris, FrancePediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education & Research, Chandigarh, IndiaPediatric Hematology & Pediatric Molecular Hematology Laboratory, Pediatric Hematology–Oncology Unit, Department of Pediatrics, Advanced Pediatrics Center, PGIMER, Chandigarh, IndiaDepartment of Pediatric Surgery, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, IndiaLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, FranceDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India