Publications by authors named "Mofareh S Alzahrani"
While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.
View Article and Find Full Text PDFMultisystem inflammatory syndrome in children (MIS-C) is a relatively new syndrome associated with coronavirus disease 2019 (COVID-19) that is characterized by a severe clinical course compared to pediatric COVID-19. This review aimed to compile the available evidence on the clinical presentation and management of MIS-C in children with COVID-19. During this systematic review, a comprehensive search was performed in the following databases: PubMed, Embase, Medline, Google Scholar, Cochrane, and Scopus, using predetermined search terms, such as Medical Subject Headings (MeSH) and keywords to find relevant studies on the MIS-C.
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- IKK2 deficiency leads to a type of combined immunodeficiency (CID) that disrupts the NF-κB activation pathway, causing severe infections in affected individuals.
- Research on four patients from two related Saudi families revealed a novel genetic mutation linked to their CID, characterized by low immunity indicators like hypogammaglobulinemia.
- While one patient successfully received a hematopoietic stem cell transplant, the others did not survive, highlighting the importance of early intervention and noting delayed umbilical cord separation as a potential indicator of IKK2 deficiency.
Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.
Methods: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs.
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
J Clin Immunol
November 2018
RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical interest as a drug target. We report four patients from three unrelated families with complete RIPK1 deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis.
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