Publications by authors named "Marina Sham"
Article Synopsis
- Early diagnosis of Severe Combined Immunodeficiency (SCID) through newborn screening (NBS) can improve survival rates and reduce healthcare costs, but it's not yet implemented in Malaysia.
- A structured interview with 13 experts revealed challenges such as a low ratio of immunologists to patients and limited public awareness about SCID.
- Ongoing initiatives aim to overcome these barriers and develop SCID NBS in Malaysia, with recommendations for government action and increased stakeholder engagement.
Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in cause severe combined immunodeficiency (SCID). More recently, heterozygous variants in identified by restricted gene panels, were also implicated with causing a less severe and variable immunodeficiency.
View Article and Find Full Text PDFBackground: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. However, the diagnosis of Hyper IgM syndrome was excluded by the normal functional studies and the mild features of ectodermal dysplasia observed from a further clinical phenotype inspection.
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