Brazilian systematic review reveals NGS diagnostic rates and reporting gaps for inborn errors of immunity across regions
Next-generation sequencing helps diagnose immune disorders in Brazil but reporting varies widely
A systematic review of 419 Brazilian patients with inborn errors of immunity highlights Next-Generation Sequencing diagnostic success but ex…
A review of 419 Brazilian patients shows next-generation sequencing diagnoses immune disorders, yet method details often lack standardizatio…
TNFAIP3 variants show estimated prevalence of 1:2,800 in U.S. autoimmune disease cohorts
A hidden genetic cause of autoimmune disease is more common than doctors thought
This cohort study estimated the prevalence of TNFAIP3 loss-of-function and haploprotein-missing variants in U.S.
A specific gene variant linked to autoimmune disease is found in about one in 2,800 people in the U.S.
CRISPR SGE platform maps functional impact of 470 IL2RG variants in X-linked severe combined immunodeficiency
New tool maps genetic errors that break immune system cells
This article describes a CRISPR-targeted saturation genome editing (SGE) platform used to map functional impact of variants in X-linked seve…
A new method mapped 470 genetic changes in immune cells, confirming 90 that stop the cells from working properly.
HSCT in AK2-Related Reticular Dysgenesis: 85.7% Survival at 10 Years
Rare Immune Disorder: Early Transplant Restores Immunity in Newborns
This retrospective observational cohort study from a single high-consanguinity center evaluated 10 patients with AK2-related reticular dysge…
Early stem cell transplants may save babies with a rare immune disorder, restoring immunity and hearing stability in a small study.