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

Harsha Prasada LashkariManisha MadkaikarAparna DalviMaya GuptaJacinta BustamanteMadhubala SharmaAmit RawatPrateek BhatiaKamalakshi G BhatSadashiva RaoNutan KamathFaheem MoideenSylvain LatourSarah WinterGandham SriLakshmi BhavaniKatta M Girisha

Published in: Indian journal of pediatrics (2021)

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.

Keyphrases

tertiary care
quality improvement
genome wide
healthcare
young adults
palliative care
copy number
patient safety
single cell
emergency department