1637 Spectrum of cases of inborn errors of immunity and their clinical and laboratory profile: a case series from a tertiary care hospital in South India

Background Inborn errors of immunity remain underdiagnosed in developing countries. Despite several limitations and challenges, there has been significant progress in diagnosing and managing these conditions. Objectives To study the clinical & laboratory profile of children with inborn errors of immunity in a tertiary care center in South India. Methods Case records of children diagnosed to have inborn errors of immunity over a period of 36 months at KLE Prabhakar Kore Hospital in South India were reviewed in detail. The details included clinical history, examination findings, laboratory parameters, and genetic tests. Results A total of forty-six children with a mean age of 3.04±4.07 years were diagnosed with inborn errors of immunity. The male-to-female ratio was 3.6:1. A positive history of consanguineous marriage was present in 32.7%. Immunodeficiency affecting cellular and humoral immunity(n=8): 6 had SCID, 1 had DOCK-8 deficiency, 1 had CARD 11 deficiency; Combined immunodeficiency with associated or syndromic features(n=5): 3 had Wiskott Aldrich syndrome, 1 had Ataxia telangiectasia and Hyper IgE syndrome; Predominant antibody deficiencies(n=5): 4 had CVID and 1 had CARD11 deficiency; Diseases of Immune dysregulation(n=15): 9 Children had familial hemophagocytic lymphohistiocytosis, 5 had autoimmune lymphoproliferative syndrome, and one T-CRD (T cell receptor immunodeficiency); Congenital defects of phagocyte number/function(n=9): 4 had CGD, 3 had severe congenital neutropenia (Kostman syndrome) and 2 had LAD; Defects in intrinsic and innate immunity(n=2): 1 had IRF8 gene deletion and another had Osteopetrosis; Autoinflammatory disorders(n=1): 1 had Familial periodic fever; Bone marrow failure(n=1): 1 child had Fanconi anaemia. Conclusions From a single-center, 46 children with inborn errors of immunity could be identified by chart review suggesting a high index of suspicion for the diagnosis of inborn errors of immunity. Children presenting with repeated infections, with a background of consanguinity, atypical courses of infections, poor response to conventional treatment should be evaluated for inborn errors of immunity. We can improve the outcome if transplant is made affordable and accessible as most patients are from lower socioeconomic groups. Awareness about these disorders may improve the diagnosis of these conditions and help in appropriate management. There is a need to share experience and data on these rare conditions and build support groups to guide patients and families afflicted with these ominous disorders.