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<p>Major histocompatibility complex class I deficiency results from deleterious biallelic variants in <i>TAP1</i>, <i>TAP2</i>, <i>TAPBP</i>, and <i>B2M</i> genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age. A novel frameshift termination variant near the protein’s amino (N-) terminal was found. Variants in exon 1 of the <i>TAP1</i> gene (as in our case) have not been reported previously. We also perform a brief review of TAP1D that hints at potential genotype-phenotype correlations. However, these findings need to be interpreted with due prudence given the small number of patients with TAP1D reported thus far.</p>

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Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?

  • 期刊论文

  • 发表日期：

    2025年1月3日

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  • Dharmagat Bhattarai,
  • Aaqib Zaffar Banday,
  • Sheetal Sharda,
  • Pratap Kumar Patra,
  • Jolan E. Walter,
  • Kathleen E. Sullivan

摘要

Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age. A novel frameshift termination variant near the protein’s amino (N-) terminal was found. Variants in exon 1 of the TAP1 gene (as in our case) have not been reported previously. We also perform a brief review of TAP1D that hints at potential genotype-phenotype correlations. However, these findings need to be interpreted with due prudence given the small number of patients with TAP1D reported thus far.