Browsing by Author "Rider, Nicholas"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
Publication Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency(2025) Abdalgani, Manar; Hernandez , Evelyn; Pedroza, Luis; Chinn, Ivan; Forbes, Lisa; Rider, Nicholas; Banerjee, Pinaki; Poli Harlowe, María Cecilia; Mahapatra, Sanjana; Canter, Debra; Cao, Tram; Shawver, Linda; Nandiwada, Sarada; Lupski, James; Posey, Jennifer; Ramakrishnan, Rajasekhar; Mace, Emily; Orange, JordanBackground: Natural killer (NK) cell deficiency (NKD) is an immunodeficiency phenotype in which abnormality of NK cells is the major clinically relevant immune defect. Objective: We sought to define the clinical, immunologic, and genetic characteristics of patients with NKD to aid in the understanding of these individuals and this cell type and guide future research and clinical practice. Methods: During 2006-2022, 168 individuals with a suspected diagnosis of NKD were enrolled, with comprehensive clinical, immunologic, and genetic data collected and analyzed. Research exome sequencing was performed to identify both known and novel genetic associations. Results: NK cell abnormalities consistent with NKD were confirmed in 148 participants. Most presented during childhood (median age 13 years, range 0-76 years), though 34% were adults. All tested individuals exhibited reduced NK cell cytotoxic function; 44% also had decreased NK cell numbers and/or mature NK cells. Herpesvirus and/or papillomavirus infections were observed in 71%, malignancies were observed in 7%, and a 5% case-fatality rate was noted. Among the 99 participants who underwent research exome sequencing, 29% were considered solved for a likely contributing variant allele, with 52% of these cases involving known genes and 48% involving novel genes. Conclusions: NKD is a phenotypic immunodeficiency associated with increased susceptibility to certain viral infections and cancer with multiple genetic etiologies, revealing key biological pathways for NK cell development and function. This research underscores the role of NK cells in human immune defenses and helps advance the identification of at-risk populations, precise genetic diagnoses, and informed clinical management for patients with NKD.Publication Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years(2025) Mamede, Lúcia; Cantenys, Roser; Van Coillie, Samya; Prévot, Johan; Sánchez, Silvia; Poli Harlowe, María Cecilia; Barasa, Anne; Schuller, Björn; Hendel, Ayal; Garcelon, Nicolas; Boersma, Cornelis; Lee, Pamela; Booth, Claire; Notarangelo, Luigi; Drabwell, Jose; Rider, Nicholas; Staal, Frank; O Burns, Siobhan; Van Hagen, Martin; Pergent, Martine; Rivière, Jacques; Mahlaoui, NizarIntroduction: The International Patient Organisation for Primary Immunodeficiencies (IPOPI) held its third edition of the Global Multi-Stakeholders' Summit, gathering key primary immunodeficiencies (PID) stakeholders and experts to discuss and foment global collaboration. Methods: This edition focused on the impact of genomic medicine in PID treatment, the role of digital health, including artificial intelligence, in PID care, and how to anticipate and minimise risks to ensure optimal patient access to care. Results: These discussions aimed to examine current hurdles and brainstorm feasible solutions and priorities for the PID community in these areas in the next ten years. Discussion: These discussions led to recommendations for comprehensive approaches to care and access to treatment for PID patients, suggesting actions that will bring the community closer to treatments based on real-world evidence and adjusted to patient's needs. To accomplish this, collaboration between academia, industry, regulatory authorities, and patients is crucial.