Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India

Abstract

Primary immune de ciencies better known as Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoin ammation, and malignancies.. Inborn Errors of Immunity are increasingly being recognized in the Indian subcontinent. Two hundred and eight patients diagnosed with an IEI during February 2017 to November 2021 at a tertiary care centre in South India were included in the study. The clinical features, laboratory ndings including microbiologic and genetic data, treatment & outcome details were analyzed. The diagnosis of IEI was con rmed in a total of 208 patients (198 kindreds) based on relevant immunological tests and/or genetic tests. The male to female ratio was 1.8:1. The most common IEI in our cohort was SCID (17.7%) followed by CGD (12.9%) and CVID (9.1%). We also had a signi cant proportion of patients with DOCK8 de ciency (7.2%), LAD (6.2%), and six patients (2.8%) with autoin ammatory diseases. Autoimmunity was noted in forty-six (22%) patients during the course of their illness. Molecular testing was performed in 152 patients by exome sequencing on NGS platform and a genetic variant was reported in 132 cases. Twenty-nine children underwent 34 HSCT, and 135 patients remain on supportive therapy such as immunoglobulin replacement and/or antimicrobial prophylaxis. Fifty-nine (28.3%) patients died during the study period and infections were the predominant cause of mortality. Seven families underwent prenatal testing in the subsequent pregnancy. We describe the pro le of 208 patients with IEI and to the best of our knowledge, this represents the largest data on IEI from the Indian subcontinent reported so far.Patient details such as the age at onset of symptoms, clinical presentation, age at diagnosis, family history, laboratory ndings including microbiologic data, treatment & outcome details were recorded. Clinical details included both infectious and noninfectious manifestations (allergy, autoimmunity, malignancy, etc) at presentation and in the past. A family history with a focus on consanguineous parentage, sibling death if any, and details of the affected family members were obtained. Family history was considered positive in case of an affected family member. Treatment details including antimicrobial prophylaxis, intravenous