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The Journal of Experimental Medicine|January 15, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humansQuentin Riller, Boris Sorin, Charline Courteille, et al.
Nature|September 17, 2010
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemiaMarina Cavazzana-Calvo, Emmanuel Payen, Olivier Negre, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
The Journal of Allergy and Clinical Immunology|December 14, 2011
Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemiaRomain Micol, Samer Kayal, Nizar Mahlaoui, et al.
Blood|March 24, 2017
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcomeManfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, et al.
Blood|July 14, 2012
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiencyAmel Hassan, Claire Booth, Alex Brightwell, et al.
Blood|January 31, 2022
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysisMichael H Albert, Mary A Slatter, Andrew R Gennery, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2018
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exonsAlexandre Bolze, Bertrand Boisson, Barbara Bosch, et al.
The Journal of Allergy and Clinical Immunology|May 26, 2016
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort studyElodie Elkaim, Benedicte Neven, Julie Bruneau, et al.
The Journal of Allergy and Clinical Immunology|September 24, 2016
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysisCarsten Speckmann, Sam Doerken, Alessandro Aiuti, et al.
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