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Article

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.

Frontiers in immunology - 1 Jan 2021

Totsune Eriko, Nakano Tomohiro, Moriya Kunihiko, Sato Daichi, Suzuki Dai, Miura Akinobu, Katayama Saori, Niizuma Hidetaka, Kanno Junko, van Zelm Menno C, Imai Kohsuke, Kanegane Hirokazu, Sasahara Yoji, Kure Shigeo

Abstract excerpt

Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy, and recurrent infections. Although LRBA deficiency is an autosomal recessive primary immunodeficiency resulting in...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Common Variable Immunodeficiency

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Source

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Identifiers

PMID: 33912197
DOI: 10.3389/fimmu.2021.677572
PMCID: PMC8072023

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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