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Journal of Clinical Immunology|January 29, 2015
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantationDivya Punwani, Haopeng Wang, Alice Y Chan, et al.
Blood|April 3, 2010
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndromeKennichi C Dowdell, Julie E Niemela, Susan Price, et al.
The Journal of Experimental Medicine|January 20, 2016
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70Alice Y Chan, Divya Punwani, Theresa A Kadlecek, et al.
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.
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.
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