Výsledky vyhledávání - "Shatha Alhamdi"

Akademický článek

Successful treatment of invasive mycobacterium infection with interferon beta in a patient with Interferon-Gamma Receptor 1 deficiency

Autor: Fayhan Alroqi, Abduarahman Almutairi, Moza Alhammadi, Shatha Alhamdi

Publikováno v: Journal of Infection and Public Health, Vol 17, Iss 8, Pp 102468- (2024)

Mendelian susceptibility to mycobacterial disease (MSMD) is caused by approximately 21 genetic defects, including a mutation in Interferon-Gamma Receptor 1 (IFNGR1). IFNGR1 deficiency leads to a loss of cellular responsiveness to type II Interferon (

Externí odkaz: https://doaj.org/article/2ec4f7e1c00a426685d0390138c5cf9a

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Akademický článek

Mucosal Immunity and the Gut-Microbiota-Brain-Axis in Neuroimmune Disease

Autor: Kathryn G. Sterling, Griffin Kutler Dodd, Shatha Alhamdi, Peter G. Asimenios, Ruben K. Dagda, Kenny L. De Meirleir, Dorothy Hudig, Vincent C. Lombardi

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 21, p 13328 (2022)

Recent advances in next-generation sequencing (NGS) technologies have opened the door to a wellspring of information regarding the composition of the gut microbiota. Leveraging NGS technology, early metagenomic studies revealed that several diseases,

Externí odkaz: https://doaj.org/article/36e5b3f78c0d4f30a0da2b5715f4e687

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Case report of a novel mutation in Bruton’s tyrosine kinase gene with confirmed agammaglobulinemia and absent B lymphocytes

Autor: Nouf Bedaiwy, Shatha Alhamdi, Wafaa Al Suwairi, Mohammad Alsalamah

Publikováno v: LymphoSign Journal. 9:1-4

Background: X-linked agammaglobulinemia type 1 (XLA) is one of the most common pediatric inborn errors of immunity affecting the humoral immune system. The condition is caused by a mutation in the Bruton’s tyrosine kinase gene (BTK), located in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d88919c7c6e21a627e65b363de6980f
https://doi.org/10.14785/lymphosign-2021-0029

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Heterozygous WNT1 variant causing a variable bone phenotype

Autor: Lynne M. Bird, Michael Gottschalk, Ryan J. Taft, Shatha Alhamdi, Brendan Lee, Peter H. Byers, Yi-Chien Lee, Kyu Sang Joeng, Shimul Chowdhury

Publikováno v: American journal of medical genetics. Part A, vol 176, iss 11

Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I collagen; at least 17 other genes have been associated with OI. Biallelic loss-of-function mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b0e3b912ec5f82c4c9fe3f22d03d987
https://doi.org/10.1002/ajmg.a.40347

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