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The Journal of Allergy and Clinical Immunology|September 18, 2025
Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiencyMehmet Cihangir Catak, Naz Surucu, Feyza Bayram Catak, et al.The Journal of Allergy and Clinical Immunology|January 7, 2024
Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiencyHazel Wilkie, Mrinmoy Das, Tyler Pelovitz, et al.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.Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.The New England Journal of Medicine|June 29, 2017
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and ThrombosisAhmet Ozen, William A Comrie, Rico C Ardy, et al.Blood|May 30, 2023
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysisSevgi Kostel Bal, Sarah Giuliani, Jana Block, et al.Journal of Clinical Immunology|April 30, 2021
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor DeficiencyDeniz Cagdas, Daniel Mayr, Safa Baris, et al.Nature Immunology|December 23, 2021
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory diseaseSatoshi Kubo, Jill M Fritz, Hayley M Raquer-McKay, et al.The Journal of Allergy and Clinical Immunology. in Practice|July 12, 2024
MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter CohortZeynep Gulec Koksal, Sevgi Bilgic Eltan, Ezgi Topyildiz, et al.Allergy|July 21, 2021
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyBurcu Kolukisa, Dilek Baser, Bengu Akcam, et al.Pageof 14