Article
Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.
Frontiers in immunology - 1 Jan 2026
Dos Santos-Bueno Filipe Vicente, Morgado Elissa Santos, Agonigi Bruna Nunes da Silva, Lopes Milena Regina Gomes, Pinheiro Marcella de Oliveira, da Silva Luciene Lima, Salú Margarida Dos Santos, Faccion Roberta Soares, de Vasconcelos Zilton Farias Meira
Abstract excerpt
Background: Inborn errors of immunity (IEI) are rare monogenic disorders affecting the immune system, leading to immunodeficiency, autoinflammation, autoimmunity, allergy, and/or malignancy. The identification of IEI has accelerated with next-generation sequencing (NGS), increasing the molecular diagnostic rate. In Latin America, IEI prevalence is about 1 in 10, 000 individuals. However, the limited availability...
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