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Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies | Synapse

April 15, 2026Open Access

Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies

Key Points

The study aims to validate CD16b as a standardized biomarker for diagnosing inherited GPI deficiencies.
Measured granulocyte CD16b levels.
Developed validated cutoffs for assay implementation.
Conducted nationwide testing through commercial providers.
CD16b levels provide a reliable screening method for inherited GPI deficiencies.
Assay implementation enables functional confirmation of GPI pathway gene variants.

Abstract

Measurement of granulocyte CD16b provides a reliable and rapid screening method for IGD that complements genetic testing. Implementation of this assay by a commercial provider, together with validated cutoffs, enables nationwide, insurance-covered diagnostic testing and functional confirmation of GPI pathway gene variants, representing a significant advance in IGD diagnosis.

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Authors

J

Junpei Tanigawa

K

Kae Imanishi

S

Saori Umeshita

Journals

Brain and Development

Actions

Institutions

The University of Osaka

Osaka City University

Wakayama Medical University

References and Citations

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Cite this study

Tanigawa et al. (Sat,) studied this question.

www.synapsesocial.com/papers/69df2a4be4eeef8a2a6af763 — DOI: https://doi.org/10.1016/j.braindev.2026.104534