Publications by authors named "Sophie Lai"
Background: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore continue to be at risk of complications.
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- - A previously healthy Chinese boy was diagnosed with cerebral phaeohyphomycosis and found to have a deficiency in CARD9, a gene related to immune response.
- - Initial scans misidentified the condition as a brain tumor, but further testing confirmed the fungal infection in the brain.
- - The boy was successfully treated with specific antifungal medications and showed significant recovery after one year.
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in multiple tissues, often in a mosaic manner.
Case Presentation: A large-for-gestational-age infant without any other somatic features of BWS presented with medically refractory hyperinsulinism (HI) requiring 80% pancreatectomy.
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in . Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others have infantile onset with more heterogeneous clinical presentations.
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