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Science Translational Medicine|December 20, 2023
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutationsŠimon Borna, Esmond Lee, Jason Nideffer, et al.Blood|November 3, 2017
Somatic mutations and clonal hematopoiesis in congenital neutropeniaJun Xia, Christopher A Miller, Jack Baty, et al.Journal of Clinical Immunology|January 17, 2024
Management of Atopy with Dupilumab and Omalizumab in CADINS DiseaseNatalie M Diaz-Cabrera, Bradly M Bauman, Mildred A Iro, et al.Frontiers in Immunology|March 24, 2025
Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementationLauren A Henderson, Roshini S Abraham, Aisha Ahmed, et al.Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.Immunity|August 13, 2019
MicroRNA-142 Is Critical for the Homeostasis and Function of Type 1 Innate Lymphoid CellsMelissa M Berrien-Elliott, Yaping Sun, Carly Neal, et al.Nature|January 1, 2025
Monoallelic expression can govern penetrance of inborn errors of immunityO'Jay Stewart, Conor Gruber, Haley E Randolph, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.The Journal of Clinical Investigation|January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeSelket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.Blood|November 12, 2021
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescueRicha Sharma, Sushree S Sahoo, Masayoshi Honda, et al.Pageof 10