Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette–Guérin disease and Pneumocystis …
Y Pan, H Pan, C Lian, B Wu, J Lin, G Huang… - Frontiers in …, 2022 - frontiersin.org
Background As a form of severe combined immunodeficiency (SCID), Janus kinase 3 (JAK3)
deficiency can be fatal during severe infections in children, especially after inoculation of live …
deficiency can be fatal during severe infections in children, especially after inoculation of live …
[HTML][HTML] Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency Unmasked by Persistent Lymphopenia and Prolonged Severe SARS-CoV-2 …
Z Benslimane, F Cipe, K Khan, MN Nabawi… - Cureus, 2024 - ncbi.nlm.nih.gov
Adenosine deaminase (ADA) deficiency, an autosomal recessive variant, is the second most
common form of severe combined immunodeficiency (SCID). We report a unique case of a …
common form of severe combined immunodeficiency (SCID). We report a unique case of a …