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

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dc.contributor.authorLashkari, Harsha Prasadaen_US
dc.contributor.authorMadkaikar, Manishaen_US
dc.contributor.authorDalvi, Aparnaen_US
dc.contributor.authorGupta, Mayaen_US
dc.contributor.authorBustamante, Jacintaen_US
dc.contributor.authorSharma, Madhubalaen_US
dc.contributor.authorRawat, Amiten_US
dc.contributor.authorBhatia, Prateeken_US
dc.contributor.authorBhat, Kamalakshi G.en_US
dc.contributor.authorRao, Sadashivaen_US
dc.contributor.authorKamath, Nutanen_US
dc.contributor.authorMoideen, Faheemen_US
dc.contributor.authorLatour, Sylvainen_US
dc.contributor.authorWinter, Sarahen_US
dc.contributor.authorBhavani, Gandham SriLakshmien_US
dc.contributor.authorGirisha, Katta M.en_US
dc.date.accessioned2023-08-19T04:53:38Z
dc.date.available2023-08-19T04:53:38Z
dc.date.issued2022-03
dc.description.abstractObjectives 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.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575001, Indiaen_US
dc.identifier.affiliationsICMR-National Institute of Immunohematology, KEM Hospital, Parel, Mumbai, Maharashtra, Indiaen_US
dc.identifier.affiliationsGénétique Humaine Des Maladies Infectieuses/Human Genetics of Infectious Diseases, INSERM UMR 1163, Université de Paris, Institut Imagine, Paris, Franceen_US
dc.identifier.affiliationsPediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education & Research, Chandigarh, Indiaen_US
dc.identifier.affiliationsPediatric Hematology & Pediatric Molecular Hematology Laboratory, Pediatric Hematology–Oncology Unit, Department of Pediatrics, Advanced Pediatrics Center, PGIMER, Chandigarh, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatric Surgery, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, Indiaen_US
dc.identifier.affiliationsLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, Franceen_US
dc.identifier.affiliationsDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, Indiaen_US
dc.identifier.citationLashkari 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): 233–242en_US
dc.identifier.issn0973-7693
dc.identifier.issn0019-5456
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223765
dc.languageenen_US
dc.publisherDr. K C Chaudhuri Foundationen_US
dc.relation.issuenumber3en_US
dc.relation.volume89en_US
dc.source.urihttps://doi.org/10.1007/s12098-021-03936-wen_US
dc.subjectPrimary immunodefciency diseases (PID)en_US
dc.subjectInborn errors of immunity (IEI)en_US
dc.subjectImmune dysregulationen_US
dc.subjectSevere combined immunodefciency (SCID)en_US
dc.subjectAgammaglobulinemiaen_US
dc.titleClinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern Indiaen_US
dc.typeJournal Articleen_US
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