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Article

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Frontiers in immunology - 1 Jan 2026

Alroqi Fayhan, Algholaiqa Thekra, Alajaji Sulaiman, Altuwaijri Abeer, Althubaiti Nouf

Abstract excerpt

Purpose: COPB1 encodes the coatomer subunit beta protein, which is essential for brain development and intracellular protein trafficking. Homozygous mutations cause Baralle-Macken syndrome that characterized by global developmental delay, severe intellectual disability, and early-onset cataracts. Although immunodeficiency has been observed in patients with COPB1 deficiency, the immunological phenotype remains...

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Identifiers

PMID: 41676145
DOI: 10.3389/fimmu.2026.1752685
PMCID: PMC12886506

Genes

COPB1
CD28

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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