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The Journal of Allergy and Clinical Immunology|July 30, 2021
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disordersLisa R Forbes, Olive S Eckstein, Nitya Gulati, et al.Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.The Journal of Allergy and Clinical Immunology|May 15, 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunityMatthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, et al.Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.The Journal of Clinical Investigation|October 15, 2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activationJonathan Bohlen, Ivan Bagarić, Taja Vatovec, et al.Nature Immunology|January 16, 2026
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and functionTaja Vatovec, Anna-Lena Neehus, Katherine J L Jackson, et al.Pageof 4