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Article

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.

International journal of environmental research and public health - 3 Sept 2022

Galati Alessio, Muciaccia Rosalia, Marucci Antonella, Di Paola Rosa, Menzaghi Claudia, Ortolani Federica, Rutigliano Alessandra, Rotondo Arianna, Fischetto Rita, Piccinno Elvira, Delvecchio Maurizio

Abstract excerpt

We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was required. He was discharged with a hybrid closed-loop system for insulin infusion and prevention of hypoglycemia...

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Identifiers

PMID: 36078750
DOI: 10.3390/ijerph191711031
PMCID: PMC9517908

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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