Article
Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.
BMC pediatrics - 13 Jul 2023
Mangodt T C, Vanden Driessche K, Norga K K, Moes N, De Bruyne M, Haerynck F, Bordon V, Jansen A C, Jonckheere A I
Abstract excerpt
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disease (PID) characterized by a regulatory T cell defect resulting in immune dysregulation and autoimmunity. We present two siblings born to consanguineous parents of North African descent with LRBA deficiency and central nervous system (CNS) manifestations. As no concise overview of these manifestations is...
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