Abstract
Inborn errors of immunity (IEIs) are rare genetic disorders characterized by increased susceptibility to infection and immune system dysregulation. Despite the significant physical toll of IEIs, there is less information on clinical and patient-reported biopsychosocial outcomes and how these individuals psychologically adapt. We invited adults with IEIs or suspected IEIs (sIEIs) enrolled on a protocol at the National Institutes of Health to complete a cross-sectional survey measuring patient-reported biopsychosocial outcomes, psychological adaptation, and perceived control. We received responses from 312 individuals. Levels of adaptation to illness were similar to previously published cohorts of individuals with chronic health conditions. Participants reported significantly increased levels of anxiety, pain, sleep disturbance, and fatigue and significantly lower levels of physical functioning compared to the general population (p < 0.05). Multiple linear regression analysis indicated that perceived present control was significantly positively associated with adaptation (β = 0.26, p < 0.05). We found that perceived present control was significantly associated with psychological adaptation. Individuals with sIEIs in our sample struggled with poorer biopsychosocial outcomes than the general population, although these may not ultimately be directly related to psychological adaptation. Interventions to increase perceived control may be beneficial to this patient population. Clinicians should also consider screening and management for psychological and physical concerns including anxiety, depression, sleep disturbance, pain, and fatigue.
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The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
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Acknowledgements
We would like to thank the entire team at the centralized sequencing program at NIAID, NIH. We thank Steven Holland, MD, for his continued support of psychosocial research projects. Finally, we thank the participants for sharing their voice and perspective with us.
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This project was funded by the Intramural Research Program at the National Institute of Allergy and Infectious Diseases, National Institutes of Health.
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Michael Setzer: conceptualization, methodology, formal analysis, and writing—original draft. Jia Yan: conceptualization, methodology, and writing—review and editing. Lori Erby: conceptualization and writing—review and editing. Morgan Similuk: conceptualization, methodology, supervision, and writing—review and editing.
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Setzer, M., Yan, J., Erby, L. et al. Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity. J Community Genet 14, 639–647 (2023). https://doi.org/10.1007/s12687-023-00670-y
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DOI: https://doi.org/10.1007/s12687-023-00670-y