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

Autor: Bhattarai D; Advanced Center for Immunology and Rheumatology, Kathmandu, 44600, Nepal. dharmagat@yahoo.co.uk.; Pediatric Clinical Immunology and Rheumatology, Division of Immunology & Pediatric Rheumatology, Advanced Centre for Immunology and Rheumatology, Kathmandu, Nepal. dharmagat@yahoo.co.uk., Banday AZ; Department of Pediatrics, Government Medical College (GMC) Srinagar, Srinagar, Kashmir, India., Sharda S; Department of Medical Genetics, Neuberg Center for Genomic Medicine, Ahmedabad, India., Patra PK; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India., Walter JE; Division of Allergy & Immunology, University of South Florida at Johns' Hopkins All Children's Hospital, St. Petersburg, 33701, USA., Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2025 Jan 03; Vol. 45 (1), pp. 63. Date of Electronic Publication: 2025 Jan 03.
DOI: 10.1007/s10875-024-01856-w
Abstrakt: 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.
Competing Interests: Declarations. Ethics Approval/Consent: This study pertains to an anonymous case description and literature review/analysis of previously published data, so ethics approval is not mandated. Informed consent was obtained from patients/caregivers before inclusion in the study. Competing Interests: The authors declare no competing interests.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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