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The Journal of Experimental Medicine|September 21, 2016
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutationsYi Wang, Cindy S Ma, Yun Ling, et al.
Allergy|July 21, 2021
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyBurcu Kolukisa, Dilek Baser, Bengu Akcam, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 9, 2016
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiencyRomain Lévy, Satoshi Okada, Vivien Béziat, et al.
Science (New York, N.Y.)|August 2, 2008
Pyogenic bacterial infections in humans with MyD88 deficiencyHorst von Bernuth, Capucine Picard, Zhongbo Jin, et al.
Immunological Reviews|February 24, 2015
Inherited and acquired immunodeficiencies underlying tuberculosis in childhoodStéphanie Boisson-Dupuis, Jacinta Bustamante, Jamila El-Baghdadi, et al.
The Journal of Experimental Medicine|July 2, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cellsLudovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, et al.
The Journal of Allergy and Clinical Immunology|March 1, 2015
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiencyKarin R Engelhardt, Michael E Gertz, Sevgi Keles, et al.
Medicine|November 9, 2010
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiencyCapucine Picard, Horst von Bernuth, Pegah Ghandil, 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.
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.
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