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View article: Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress
Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress Open
Introduction Early diagnosis of Severe Combined Immunodeficiency (SCID) increases survival outcomes and quality of life while significantly minimizing healthcare burden and costs. Despite growing evidence supporting the benefits and cost-e…
View article: Mild COVID-19 clinical course among paediatric patients with primary immunodeficiency
Mild COVID-19 clinical course among paediatric patients with primary immunodeficiency Open
BACKGROUND: The clinical course of coronavirus disease-2019 (COVID-19) varies from those who are asymptomatic, experience mild symptoms such as fever, cough, and dyspnea, to more severe outcomes including acute respiratory distress, pneumo…
View article: A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia Open
Background: 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 des…