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Frontiers in Genetics|August 27, 2025
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registryZahra Chavoshzadeh, Shahrzad Fallah, Vahide Zeinali, 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|June 8, 2026
GPR15-guided CD8+ T regulatory cells control intestinal inflammationJing Cui, Zuojia Chen, Yan H Cheng, et al.
Blood|July 1, 2020
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiencySujal Ghosh, Sevgi Köstel Bal, Emily S J Edwards, et al.
Nature Immunology|January 3, 2024
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathwayAnn Y Park, Michael Leney-Greene, Matthew Lynberg, et al.
The Journal of Experimental Medicine|December 14, 2022
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiencyRomain Lévy, Florian Gothe, Mana Momenilandi, et al.
The Journal of Allergy and Clinical Immunology. in Practice|March 17, 2019
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG DeficiencyJocelyn R Farmer, Zsofia Foldvari, Boglarka Ujhazi, 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.
The Journal of Allergy and Clinical Immunology|October 13, 2022
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeJennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, 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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