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Selected Publication:
Horn, A.
A comparative analysis of the utility and validity of the IMMUNE DEFICIENCY AND DYSREGULATION ACTIVITY (IDDA) and other clinical scores for inborn errors of immunity
Humanmedizin; [ Diplomarbeit ] Medizinische Universität Graz; 2022. pp. 91
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- Authors Med Uni Graz:
- Advisor:
- Seidel Markus
- Tesch Victoria Katharina
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- Abstract:
- Background: Scoring methods in inborn errors of immunity (IEI) show a variety of possible applications. They can facilitate diagnosis, classification of a disorder, and objectification of disease activity or severity. An attempt will be made to provide an overview of clinical scores currently used in IEI. In particular, the applicability and weaknesses of the immunodeficiency and dysregulatory activity (IDDA) 2.1 score, will be reviewed in comparison with other established scores for IEI. Methods: A comprehensive literature search was performed in order to provide a descriptive comparison of different scores and measures frequently used in IEI based on published data. Results: Most scores or measures identified for an application in IEI be divided into at least three partly overlapping categories: The Hyper-Immunoglobulin E (IgE) Score, the H Score for hemophagocytic lymphohisiocytosis (HLH) and the Wiskott Aldrich Syndrome (WAS) score are diagnostic assistive tools and scores for classification of severity and clinical subtypes. Other scoring systems, as the Common Variable Immune Deficiency (CVID) score, the Autoinflammatory disease activity index (AIDAI), Profound combined immunodeficiency (PCID) Morbidity Measure, the Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) Organ Impairment Score, a score for Cytotoxic T-lymphocyte antigen 4 (CTLA4) insufficiency and the IDDA 2.1 score are primarily used to assess organ involvement, evaluation of morbidity and disease activity. The final category is addressing treatment stratification scores, such as those applied for hypogammaglobulinemia. Main characteristics of all these scores are presented and compared. Conclusions and discussion: The described clinical scores are quite heterogeneous and several of them are strictly disease-specific. To improve informative value and comparability, a standardized, easy-to-use scoring method that reflects the complexity of diseases would be needed. A potential instrument for this purpose is the IDDA 2.1 score, which could be applied to many diseases with immune dysregulation. It is available in the ESID (European Society for Immunodeficiencies) registry as part of a prospective study to develop a machine learning based tool. This simplifies the monitoring of disease burden, for example, during induction therapy prior to HSCT. Furthermore, especially in combination with the "kaleidoscope feature", supportive guidance for phenotype-guided therapies can be provided.