No abstract

Primary immune deficiencies better known as Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoinflammation, 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 findings including microbiologic and genetic data, treatment & outcome details were analyzed. The diagnosis of IEI was confirmed 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 significant proportion of patients with DOCK8 deficiency (7.2%), LAD (6.2%), and six patients (2.8%) with autoinflammatory 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 profile 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.

Objectives of this study were to investigate the characteristics of metabolic acidosis associated with rotavirus gastroenteritis and to explore them as a tool in the management of dehydration. The study was retrospective, case record based and conducted in a secondary level District General Hospital. Included study population were 133 children who were admitted to the Paediatric Unit with rotavirus gastroenteritis. Degree of dehydration, result of blood gas analysis, C-reactive protein level, urinary ketones, renal function tests, fluid management and duration of hospitalization were recorded and results compared between patients with and without severe metabolic acidosis (serum bicarbonate < 17 mmol/L). Out of 133 patients, blood gas analysis was obtained in 78 (59%) and 73 (94%) of those showed metabolic acidosis (bicarbonate < 22 mmol/L). Thirty five patients developed severe metabolic acidosis. Patients with severe metabolic acidosis showed signs of dehydration more commonly (97% vs. 74%, p < 0.05) and required intravenous rehydration more frequently (94% vs. 63%, p < 0.05) than those who were not severely acidotic. With respect to gender ratio, initial temperature, serum levels of C-reactive protein, chloride, anion-gap, lactate and ketonuria, there were no significant differences between the severely acidotic patients and those who were not. Urea and creatinine levels were higher (46.6 (11.7) versus 37.8 (11.9) micromole/L for creatinine and 5.5 (1.9) versus 4.2 (2.1) mmol/L for urea, p < 0.05) in patients with severe metabolic acidosis and correlated significantly negatively (for both: r = − 0.29, p = 0.02) with serum bicarbonate levels. We concluded that the majority of children attending hospital with rotavirus gastroenteritis had a metabolic acidosis. Severe metabolic acidosis was associated with more severe dehydration and higher urea and creatinine levels and increased requirement for intravenous fluid boluses and intravenous rehydration. A bicarbonate level of > 17 mmol/L excluded severe clinical dehydration and below this level a degree of dehydration was very likely.