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Blood|November 1, 2014
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsJoshua D Milner, Tiphanie P Vogel, Lisa Forbes, et al.Arthritis & Rheumatology (Hoboken, N.J.)|October 28, 2025
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 VariantsJian Yue, Courtney E LeSon, Casey A Rimland, et al.The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Frontiers in Immunology|March 11, 2020
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) SurveyAlice Y Chan, Jennifer W Leiding, Xuerong Liu, et al.The Journal of Allergy and Clinical Immunology|February 7, 2026
Targeted deep sequencing identifies mosaicism in patients with immune dysregulationElizabeth G Schmitz, Alexander J Paul, Rajarshi Ghosh, 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|February 15, 2026
Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolutionTingyan He, Jun Wang, Manuel Carpio Tumba, 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.Genome Medicine|April 5, 2023
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.Pageof 13