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Biorxiv : the Preprint Server for Biology|April 3, 2026
Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humansDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.The Journal of Experimental Medicine|July 9, 2026
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosisDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.The Journal of Experimental Medicine|July 13, 2016
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsetsCindy S Ma, Natalie Wong, Geetha Rao, et al.The Journal of Clinical Investigation|October 8, 2021
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agentsRomain Lévy, David Langlais, Vivien Béziat, et al.Blood|September 27, 2018
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiencyImmacolata Brigida, Matteo Zoccolillo, Maria Pia Cicalese, et al.The New England Journal of Medicine|June 18, 2015
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive InfectionsKerry Dobbs, Cecilia Domínguez Conde, Shen-Ying Zhang, et al.Journal of Immunology (Baltimore, Md. : 1950)|June 29, 2021
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 DeficiencyTom Le Voyer, Sonoko Sakata, Miyuki Tsumura, et al.The Journal of Experimental Medicine|November 7, 2022
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccinationAurélien Sokal, Paul Bastard, Pascal Chappert, et al.Medicine|February 23, 2013
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindredsCarolina Prando, Arina Samarina, Jacinta Bustamante, et al.Science (New York, N.Y.)|December 20, 2022
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in childrenDanyel Lee, Jérémie Le Pen, Ahmad Yatim, et al.Pageof 96