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The Journal of Experimental Medicine|July 15, 2021
Impaired respiratory burst contributes to infections in PKCδ-deficient patientsAnna-Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, et al.Blood|September 22, 2025
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective studyUli S Herrmann, Matthias Felber, Austen Worth, et al.Journal of Clinical Immunology|July 2, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in TürkiyeBaran Erman, Umran Aba, Canberk Ipsir, et al.The Journal of Allergy and Clinical Immunology|December 31, 2019
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) scoreVictoria Katharina Tesch, Hassan Abolhassani, Bella Shadur, et al.The Journal of Allergy and Clinical Immunology|August 18, 2023
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiencyNigar Taghizade, Royala Babayeva, Altan Kara, et al.The Journal of Allergy and Clinical Immunology. in Practice|October 20, 2022
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of ImmunitySafa Baris, Hassan Abolhassani, Michel J Massaad, et al.The Journal of Experimental Medicine|March 25, 2020
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndromeVivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.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.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.Pageof 4