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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 31, 2003
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisAnnalisa Frattini, Alessandra Pangrazio, Lucia Susani, et al.The Journal of Allergy and Clinical Immunology|December 29, 2024
Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10Hye Sun Kuehn, Marita Bosticardo, Antonio C Arrieta, et al.Journal of Clinical Immunology|January 17, 2023
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic DevelopmentPeter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, et al.Journal of Clinical Immunology|December 18, 2014
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disordersDavid Buchbinder, Rebecca Baker, Yu Nee Lee, et al.The Journal of Allergy and Clinical Immunology|December 16, 2017
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulationValentina Capo, Maria Carmina Castiello, Elena Fontana, et al.Nature Communications|May 5, 2018
WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasisAmlan Biswas, Dror S Shouval, Alexandra Griffith, et al.Frontiers in Immunology|April 6, 2019
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell DevelopmentGenni Enza Marcovecchio, Ileana Bortolomai, Francesca Ferrua, et al.The Journal of Allergy and Clinical Immunology|March 5, 2025
Prior SARS-CoV-2 infection affects adaptive immune responses to Omicron BA.4/BA.5 mRNA boosterBrianna T Wachter, Qin Xu, Lihong Shi, et al.The Journal of Allergy and Clinical Immunology|December 17, 2009
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and managementLinda M Griffith, Morton J Cowan, Luigi D Notarangelo, et al.The Journal of Infectious Diseases|May 12, 2026
Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literatureChen Wang, Evgenii Filippov, Amir Seyedmousavi, et al.Pageof 47