Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy – genetic and clinical insights

ObjectiveThe study aims to report a rare case of a novel homozygous variant in the LRBA gene, originating from uniparental disomy of paternal origin. This case contributes new clinical data to the LRBA gene variant database.MethodsThe study details the…

Causal associations between circulating cytokines and risk of sepsis and related outcomes: a two-sample Mendelian randomization study

IntroductionSepsis represents a critical medical condition that arises due to an imbalanced host reaction to infection. Central to its pathophysiology are cytokines. However, observational investigations that explore the interrelationships between circ…

Experience of pediatric to adult transition in immunology services: patient experience questionnaire and micro-costing analysis

The effective transition from pediatric to adult care for individuals with chronic medical conditions should address the medical, psychosocial and educational needs of the cohort. The views and experiences of service users and their families are an int…

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