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Frontiers in Immunology|March 3, 2025
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopeniaRobert Sertori, Billy Truong, Manoj K Singh, et al.Journal of Clinical Immunology|January 10, 2014
Bone density and fractures in autosomal dominant hyper IgE syndromeKathryn J Sowerwine, Pamela A Shaw, Wenjuan Gu, et al.Human Genetics|February 1, 2006
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndromeShigui Zhu, Amy P Hsu, Marla M Vacek, et al.American Journal of Hematology|January 25, 2006
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS)V Koneti Rao, Jorge A Carrasquillo, Janet K Dale, et al.The Journal of Experimental Medicine|July 16, 2008
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylationGuillaume Vogt, Jacinta Bustamante, Ariane Chapgier, et al.Proceedings of the National Academy of Sciences of the United States of America|May 23, 2007
NRAS mutation causes a human autoimmune lymphoproliferative syndromeJoão B Oliveira, Nicolas Bidère, Julie E Niemela, et al.Blood|March 21, 2007
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiencyJavier Chinen, Joie Davis, Suk See De Ravin, et al.Nature Biotechnology|December 11, 2019
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiencyDavid N Nguyen, Theodore L Roth, P Jonathan Li, et al.Pediatric Transplantation|September 3, 2011
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCIDGrace P Yu, Kari C Nadeau, David R Berk, et al.The New England Journal of Medicine|December 14, 2016
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11BDivya Punwani, Yong Zhang, Jason Yu, et al.Pageof 16