Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA) Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

• Main Authors: Shahrzad Bakhtiar (Author), Eva Levy (Author), Frank Ruemmele (Author), Fabienne Chabrit-Henrion (Author), Frédéric Rieux-Laucat (Author), Nadine Cerf-Bensussan (Author), Peter Bader (Author), Ulrich Paetow (Author)
• Format: Book
• Published: Frontiers Media S.A., 2016-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA) deficiency was described...