hrp0084p1-150 | Miscelleaneous | ESPE2015

Severe Immunodysregulation Phenotypes Including Infancy-Onset Type 1 Diabetes Mellitus in Two Siblings with a Homozygous Mutation in the LPS-Responsive Beige-Like Anchor (LRBA) Gene

Schreiner Felix , Plamper Michaela , Duker Gesche , Schoenberger Stefan , Altmueller Janine , Hilger Alina , Reutter Heiko , Woelfle Joachim

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...