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Article

Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.

The Journal of allergy and clinical immunology - 1 Oct 2024

Elsayed Abdulwahab, von Hardenberg Sandra, Atschekzei Faranaz, Graalmann Theresa, Jänke Christine, Witte Torsten, Ringshausen Felix C, Sogkas Georgios

Abstract excerpt

BACKGROUND: Human tapasin deficiency is reported to cause an autosomal-recessive inborn error of immunity characterized by substantially reduced cell surface expression of major histocompatibility complex class I (MHC-I). OBJECTIVE: We evaluated the immunologic and clinical consequences of tapasin deficiency. METHODS: A novel homozygous variant in TAPBP was identified by means of whole genome sequencing. The...

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PMID: 38866210
DOI: 10.1016/j.jaci.2024.06.003

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