Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review

• मुख्य लेखकों: T. C. Mangodt (लेखक), K. Vanden Driessche (लेखक), K. K. Norga (लेखक), N. Moes (लेखक), M. De Bruyne (लेखक), F. Haerynck (लेखक), V. Bordon (लेखक), A. C. Jansen (लेखक), A. I. Jonckheere (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2023-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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 w...