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Journal of Human Immunity|January 29, 2026
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiencyChen Wang, Meera Patel, Amanda Urban, et al.
Frontiers in Immunology|July 2, 2025
Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten yearsLúcia Mamede, Roser Cantenys Sabà, Samya Van Coillie, et al.
Genome Medicine|September 29, 2018
T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiencyErik L Clarke, A Jesse Connell, Emmanuelle Six, et al.
Cell Reports. Medicine|September 27, 2023
Expanded microbiome niches of RAG-deficient patientsRyan A Blaustein, Zeyang Shen, Sara Saheb Kashaf, et al.
The Journal of Allergy and Clinical Immunology|December 1, 2022
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 DefinitionsChristopher C Dvorak, Elie Haddad, Jennifer Heimall, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2010
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeFrancesca Rucci, Luigi D Notarangelo, Alex Fazeli, et al.
The Journal of Allergy and Clinical Immunology|August 12, 2014
Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiencyChristopher C Dvorak, Amel Hassan, Mary A Slatter, et al.
Medrxiv : the Preprint Server for Health Sciences|September 12, 2022
Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C)Christopher Redmond, Moses M Kitakule, Aran Son, et al.
Frontiers in Immunology|January 23, 2023
CRISPR-Cas9-AAV versus lentivector transduction for genome modification of X-linked severe combined immunodeficiency hematopoietic stem cellsJulie Brault, Taylor Liu, Siyuan Liu, et al.
Nature Immunology|August 22, 2018
Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunitySilvia Preite, Jennifer L Cannons, Andrea J Radtke, et al.
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