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Pediatr Transplant ; : e14468, 2023 Jan 05.
Article in English | MEDLINE | ID: covidwho-2239543


BACKGROUND: Adolescents who have received a kidney transplant are at high risk of graft rejection and transplant-related comorbidities around the time of transition from pediatric to adult care. While there has been a progress in tracking transition readiness, further work is needed to prepare adolescents for healthcare transitions. We describe a longitudinal cohort-based transition curriculum designed to prepare kidney transplant recipients for adult transplant care. METHODS: Adolescent kidney transplant recipients aged 17 and older participated in the pilot cohort of the 2-year transition curriculum. Session topics included communication with the healthcare team, insurance, job skills, reflective practice, reproductive health, medications, and adult clinic introduction. Surveys were given to obtain narrative feedback, assess participant self-management behavior, and track curriculum knowledge. RESULTS: Each participant attended an average of two sessions, with 18 out of 30 eligible adolescents participating in at least one session. After transitioning to a virtual platform, there was increased attendance of participants who live greater than 150 miles from the transplant center. Adolescents highlighted the value of the program's group structure to relate to and learn from other participants. CONCLUSIONS: The pilot transition program successfully provided adolescent kidney transplant recipients the opportunity to learn alongside their peers and gain interdisciplinary knowledge to prepare for healthcare transition. The program converted to a virtual platform during the COVID-19 pandemic, with increased accessibility for participants who live further from the transplant center. Group-based programming for adolescents should be enhanced to further prepare them for transitions to adult medicine.

Immunity ; 53(3): 672-684.e11, 2020 09 15.
Article in English | MEDLINE | ID: covidwho-797268


Autoinflammatory disease can result from monogenic errors of immunity. We describe a patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a kinase essential for signaling downstream of >25 cytokines. By custom single-cell RNA sequencing, we examine mosaicism with single-cell resolution. We find that JAK1 transcription was predominantly restricted to a single allele across different cells, introducing the concept of a mutational "transcriptotype" that differs from the genotype. Functionally, the mutation increases JAK1 activity and transactivates partnering JAKs, independent of its catalytic domain. S703I JAK1 is not only hypermorphic for cytokine signaling but also neomorphic, as it enables signaling cascades not canonically mediated by JAK1. Given these results, the patient was treated with tofacitinib, a JAK inhibitor, leading to the rapid resolution of clinical disease. These findings offer a platform for personalized medicine with the concurrent discovery of fundamental biological principles.

Hereditary Autoinflammatory Diseases/genetics , Hereditary Autoinflammatory Diseases/pathology , Janus Kinase 1/genetics , Systemic Inflammatory Response Syndrome/genetics , Systemic Inflammatory Response Syndrome/pathology , Adolescent , COVID-19/mortality , Catalytic Domain/genetics , Cell Line , Cytokines/metabolism , Female , Gain of Function Mutation/genetics , Genotype , HEK293 Cells , Hereditary Autoinflammatory Diseases/drug therapy , Humans , Janus Kinase 1/antagonists & inhibitors , Mosaicism , Piperidines/therapeutic use , Precision Medicine/methods , Pyrimidines/therapeutic use , Signal Transduction/immunology , Systemic Inflammatory Response Syndrome/drug therapy