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The Journal of Experimental Medicine|May 27, 2015
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasiaBertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, et al.JCI Insight|December 22, 2025
IKAROS regulates human T cell phenotype at a thymic and postthymic levelJennifer Stoddard, Hye Sun Kuehn, Ravichandra Tagirasa, et al.American Journal of Human Genetics|July 9, 2008
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsMatteo M Guerrini, Cristina Sobacchi, Barbara Cassani, et al.Journal of Clinical Immunology|December 15, 2023
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn SyndromeMaria Rodrigo Riestra, Bethany A Pillay, Mathijs Willemsen, et al.Blood|April 9, 2010
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantationVictoria Bordon, Andrew R Gennery, Mary A Slatter, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 3, 2013
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severityAlessandra Pangrazio, Anders Fasth, Andrea Sbardellati, et al.Journal of Clinical Immunology|March 7, 2019
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil DysfunctionLeen Moens, Mieke Gouwy, Barbara Bosch, et al.Frontiers in Immunology|August 8, 2014
Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndromeAmy E O'Connell, Stefano Volpi, Kerry Dobbs, et al.Blood|April 15, 2018
Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive functionJared H Rowe, Ottavia M Delmonte, Sevgi Keles, et al.Journal of Clinical Immunology|May 10, 2013
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideAhmed Aziz Bousfiha, Leïla Jeddane, Fatima Ailal, et al.Pageof 47