Publications by authors named "G el-Ghazali"
Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.
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- * Currently, about 20% of the combined haplotypes from Europe are represented, but many common and rare haplotypes, particularly those associated with certain diseases, are still lacking from the global sample.
- * The workshop is now seeking DNA samples from diverse populations, especially non-Europeans, resulting in 537 individuals contributing 294 distinct haplotypes, but still highlighting the need for more representation, particularly from African populations.
Article Synopsis
- The CDC and ACIP endorse COVID-19 vaccination for patients with inborn errors of immunity (IEI), but there's limited knowledge on its safety and impact on infection severity in these patients.
- A study involving a registry of 1,245 IEI patients across 24 countries was conducted to gather data on vaccination frequency, safety, and effectiveness, revealing that 64.7% were vaccinated, primarily with mRNA vaccines.
- Results showed that vaccinated patients had significantly lower hospitalization and ICU admission rates when infected with COVID-19, indicating that vaccination is both safe and effective in reducing the severity of the disease in IEI patients.
Background: Chronic granulomatous disease (CGD) is a genetic disorder caused by defective oxidative burst within phagocytes, manifesting as recurrent, severe infections as well as hyperinflammation.
Objective: This is the first report from the United Arab Emirates (UAE) to describe the demographic, clinical, laboratory, radiological, and genetic characteristics of patients with CGD.
Methods: This is a retrospective study that was conducted at Tawam Hospital in the UAE on patients with confirmed CGD between 2017 and 2022.
Article Synopsis
- * This deficiency results in the impaired translation of important proteins like JAK2, affecting cellular responses to specific cytokines such as IL-23 and IL-12, particularly in T lymphocytes and phagocytes.
- * The impaired response to IL-23 reduces the production of IFN-γ by certain immune cells during mycobacterial infections, highlighting a crucial link between MCTS1 deficiency and mycobacterial disease susceptibility.