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Article

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

The Journal of clinical endocrinology and metabolism - 1 Mar 2016

Schreiner Felix, Plamper Michaela, Dueker Gesche, Schoenberger Stefan, Gámez-Díaz Laura, Grimbacher Bodo, Hilger Alina C, Gohlke Bettina, Reutter Heiko, Woelfle Joachim

Abstract excerpt

CONTEXT: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against pancreatic β-cells. Although a significant number of T1DM patients have or will develop further autoimmune disorders during their lifetime, coexisting severe immunodysregulation is rare. OBJECTIVE: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM and short stature in two siblings, we...

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Source

Identifiers

PMID: 26745254
DOI: 10.1210/jc.2015-3382

Genes

LRBA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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