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JCI Insight|March 13, 2020
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutationEmmanuel Martin, Norbert Minet, Anne-Claire Boschat, 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.The Journal of Allergy and Clinical Immunology|October 5, 2016
Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) studyVincent Barlogis, Nizar Mahlaoui, Pascal Auquier, et al.Blood|June 28, 2014
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patientsBénédicte Neven, Julie Bruneau, Marie-Claude Stolzenberg, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 25, 2012
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutationsAlessandra Pangrazio, Barbara Cassani, Matteo M Guerrini, et al.Blood|January 28, 2015
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter studyMieke Aldenhoven, Robert F Wynn, Paul J Orchard, et al.Gastroenterology|June 12, 2010
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathyNicolette Moes, Frédéric Rieux-Laucat, Bernadette Begue, et al.The Journal of Clinical Investigation|December 3, 2013
TTC7A mutations disrupt intestinal epithelial apicobasal polarityAmélie E Bigorgne, Henner F Farin, Roxane Lemoine, et al.The Journal of Experimental Medicine|August 30, 2024
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activationAnne Doye, Paul Chaintreuil, Chantal Lagresle-Peyrou, et al.Nature Immunology|September 13, 2016
Evidence of innate lymphoid cell redundancy in humansFrédéric Vély, Vincent Barlogis, Blandine Vallentin, et al.Pageof 44