Infectious susceptibility is a component of many inborn errors of immunity. Nevertheless,
antibiotic use is often used as a surrogate in history taking for infectious susceptibility …

NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments.
Following the successful implementation of SCID-NBS programs, a call for the early …

Background People with inflammatory or autoimmune diseases are recommended to
continue immunomodulatory biologic agents throughout pregnancy. However, concerns …

Introduction Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder,
characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most …

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 …

Universal newborn screening for spinal muscular atrophy in Ukraine Page 1 Correspondence
288 www.thelancet.com Vol 402 July 22, 2023 National Food Safety Authority, Aswan Branch …

Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder
characterized by impairment in the development and function of lymphocytes and could be …

Inborn errors of immunity (IEIs), the classification for genetic disorders altering normal,
lifelong immune function, were previously considered to be rare, with European registries …

Objective: Efficient management of inherited metabolic disorders requires early diagnosis
through newborn screening, confirmatory diagnostic analyses, follow-up of detected …

В 2021 г. Свердловская область стала одним из первых регионов-участников пилотного
проекта по неонатальному скринингу на выявление тяжелых форм первичных …