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Science (New York, N.Y.)|February 26, 2011
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunityAnne Puel, Sophie Cypowyj, Jacinta Bustamante, et al.The Journal of Clinical Investigation|November 14, 2018
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiencyBertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, et al.Proceedings of the National Academy of Sciences of the United States of America|July 27, 2019
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominanceJoëlle Khourieh, Geetha Rao, Tanwir Habib, et al.Blood|September 25, 2012
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patientsSandra Weller, Mélanie Bonnet, Héloïse Delagreverie, et al.The New England Journal of Medicine|August 19, 2011
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasisSlaheddine Marrakchi, Philippe Guigue, Blair R Renshaw, et al.The Journal of Experimental Medicine|February 4, 2010
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IAnne Puel, Rainer Döffinger, Angels Natividad, et al.Nature Immunology|October 30, 2012
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyBertrand Boisson, Emmanuel Laplantine, Carolina Prando, et al.Science Immunology|December 1, 2019
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-βJuan Li, Marco Ritelli, Cindy S Ma, et al.Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|April 25, 2014
Invasive pneumococcal disease in children can reveal a primary immunodeficiencyJean Gaschignard, Corinne Levy, Maya Chrabieh, et al.Cell|February 25, 2017
Human Adaptive Immunity Rescues an Inborn Error of Innate ImmunityLaura Israel, Ying Wang, Katarzyna Bulek, et al.Pageof 4