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Article

A patient with RFX5 variant causing an expression defect in both HLA ABC and HLA DR.

Immunologic research - 16 Apr 2025

Goktas Serdar, Sonmez Gamze, Şahin Ali, Çevik Nadira Nabiyeva, Caka Canan, Yaz Ismail, Esenboga Saliha, Cagdas Deniz

Abstract excerpt

The major histocompatibility complex (MHC) encompasses a group of genes critical for immune system regulation. In humans, these molecules are referred to as human leukocyte antigens (HLA) due to their initial discovery in human leukocytes. Class I molecules present antigens to CD8 + T cells, while Class II molecules present to CD4 + T cells. Here we report a patient who had a background of parental consanguinity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40240550
DOI: 10.1007/s12026-025-09627-4

Genes

CD4
B2M

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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