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Article

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

Journal of clinical immunology - 3 Jan 2025

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 39751995
DOI: 10.1007/s10875-024-01856-w

Genes

TAP1
B2M
TAP2
TAPBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?PMID 39751995Read ↗

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