Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.

Clinical immunology (Orlando, Fla.) - 1 Dec 2023

Hsieh Chu-Han, Lee Ju, Sung Hsiang-Hsuan, Huang Ya-Fang, Ding Yu-Sian, Li Chia-Yi, Yen Chia-Liang, Hsu Chao-Kai, Yu Chun-Keung, Hsieh Hsin-Ying, Hughes Michael Warren, Chen Peng-Chieh, Shieh Chi-Chang

Abstract excerpt

We characterized a family diagnosed with immunodeficiency disease presenting with low immunoglobulin levels and skin dyskeratosis. Exome sequencing revealed compound heterozygous missense variants in SLC5A6, the gene encoding a cellular sodium-dependent multivitamin transporter (SMVT) responsible for transporting vitamins, including biotin (vitamin B7). We showed that the biotin deficiency was caused by the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to B-Lymphocytes
Share to Biotin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 38036278
DOI: 10.1016/j.clim.2023.109855

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.PMID 38036278Read ↗

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.Semantic proximity Read ↗

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6Semantic proximity Read ↗

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.Semantic proximity Read ↗

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.Semantic proximity Read ↗

Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.Semantic proximity Read ↗

A <i>Slc5a6</i> Deficient Mouse Model Reveals a Metabolically Driven Dilated Cardiomyopathy with Therapeutic Potential for Vitamin-Based InterventionSemantic proximity Read ↗

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.Semantic proximity Read ↗

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".Semantic proximity Read ↗

Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.Semantic proximity Read ↗

Biotinidase deficiency and our champagne legacy.Semantic proximity Read ↗

The transporters SLC35A1 and SLC30A1 play opposite roles in cell survival upon VSV virus infectionSemantic proximity Read ↗

Forty-eight novel mutations causing biotinidase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.