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

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

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...

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Bibliographic Details
Main Authors: Shahrzad Bakhtiar, Eva Levy, Frank Ruemmele, Fabienne Chabrit-Henrion, Frédéric Rieux-Laucat, Nadine Cerf-Bensussan, Peter Bader, Ulrich Paetow
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-09-01
Series:Frontiers in Pediatrics
Subjects:
Stem Cell Transplantation
autoimmune enteropathy
autoimmune thyroiditis
genotype-phenotype correlation
Lipopolysaccharide responsive beige-like anchor (LRBA) gene
Online Access:http://journal.frontiersin.org/Journal/10.3389/fped.2016.00098/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fped.2016.00098/full

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