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Nature Medicine|February 15, 2024
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiencyMaddalena Migliavacca, Federica Barzaghi, Claudia Fossati, et al.
Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
The Journal of Allergy and Clinical Immunology|September 27, 2020
Coronavirus disease 2019 in patients with inborn errors of immunity: An international studyIsabelle Meyts, Giorgia Bucciol, Isabella Quinti, 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.
Frontiers in Immunology|March 31, 2018
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome RegistryMaria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi, 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.
The Journal of Allergy and Clinical Immunology|December 16, 2017
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective studyFederica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, et al.
Science Immunology|August 20, 2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Takaki Asano, Bertrand Boisson, Fanny Onodi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
The Journal of Allergy and Clinical Immunology|June 30, 2023
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunityMaria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, et al.
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