article · Journal of Human Immunity
The 2024 update of the International Union of Immunological Societies phenotypic classification provides a structured resource to assist clinicians with bedside diagnosis of inborn errors of immunity. Designed to accompany and complement the concurrent genotypic classification, the framework focuses on clinical presentations and basic laboratory phenotypes of specific conditions. A total of 559 inborn errors of immunity are detailed within this update, encompassing 67 novel monogenic defects along with two new phenocopies. To facilitate diagnostic evaluation, the classification is structured using decision trees wherever feasible, guided by essential clinical and immunological phenotypic entries. This clinical tool aids medical practitioners in navigating complex immunological presentations by linking observable patient traits and laboratory findings directly to categorised immune disorders.
Inborn errors of immunity are complex conditions that can be challenging to identify. By providing an updated, structured reference based on observable symptoms and standard laboratory tests, this classification assists clinicians in diagnosing rare immune conditions directly at the bedside. Improving diagnostic navigation helps medical professionals identify specific disorders more readily, supporting more accurate clinical evaluation for affected patients.
The classification offers direct clinical diagnostic utility for healthcare providers evaluating patients with suspected immune disorders. It is immediately applicable as a bedside decision-support framework. In addition, the structured decision trees could be integrated into clinical software, digital diagnostic pathways, or health information systems. However, the abstract does not indicate a commercial application pathway or formal commercialisation programme beyond clinical adoption.
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Here, we report the 2024 update of the phenotypic classification by the International Union of Immunological Societies (IUIS) expert committee (EC) on inborn errors of immunity (IEI), which accompanies and complements the 2024 genotypic classification. The aim of this classification is to help diagnosis for clinicians at the bedside and focuses on clinical features and basic laboratory phenotypes of specific IEI. In this update, 559 IEI are described, including 67 novel monogenic defects and 2 new phenocopies. This phenotypic classification is presented in the form of decision trees when possible, with essential clinical or immunological phenotype entries.
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DOI: 10.70962/jhi.20250002
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