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

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 fo...

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Veröffentlicht in:	Clinical immunology (Orlando, Fla.) Fla.), 2023-12, Vol.257, p.109855-109855, Article 109855
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals B-Lymphocytes - metabolism Biotin - metabolism Biotinidase Deficiency - genetics Humans Mice Mutation
Online-Zugang:	Volltext
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