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Immunity|November 29, 2022
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulationEtienne Masle-Farquhar, Katherine J L Jackson, Timothy J Peters, et al.American Journal of Human Genetics|November 17, 2020
Multiplexed Functional Assessment of Genetic Variants in CARD11Iana Meitlis, Eric J Allenspach, Bradly M Bauman, et al.American Journal of Human Genetics|August 27, 2019
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early ThymopoiesisMarita Bosticardo, Yasuhiro Yamazaki, Jennifer Cowan, et al.The Journal of Allergy and Clinical Immunology|December 2, 2024
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cellsGeetha Rao, Corinne D Mack, Tina Nguyen, et al.Blood|January 29, 2021
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of functionJahnavi Aluri, Alicia Bach, Saara Kaviany, et al.Nature Genetics|October 28, 2017
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic diseaseChi A Ma, Jeffrey R Stinson, Yuan Zhang, et al.Biorxiv : the Preprint Server for Biology|December 23, 2024
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF SyndromeJose S Campos Duran, Samir Sayed, Megan C Dalalo, et al.The Journal of Allergy and Clinical Immunology|February 22, 2026
Clinical relevance of mosaic variants detected by exome sequencingRajarshi Ghosh, Zeeshan Fazal, Andrew J Oler, et al.Nature Genetics|June 20, 2017
Germline hypomorphic CARD11 mutations in severe atopic diseaseChi A Ma, Jeffrey R Stinson, Yuan Zhang, et al.Science Translational Medicine|June 7, 2019
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune toleranceElise M N Ferré, Timothy J Break, Peter D Burbelo, et al.Pageof 13