A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity V Béziat, J Li, JX Lin, CS Ma, P Li, A Bousfiha, I Pellier, S Zoghi, S Baris, ... Science immunology 3 (24), eaat4956, 2018 | 172 | 2018 |
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency J Cottineau, MC Kottemann, FP Lach, YH Kang, F Vély, EK Deenick, ... The Journal of clinical investigation 127 (5), 1991-2006, 2017 | 127 | 2017 |
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations Y Wang, CS Ma, Y Ling, A Bousfiha, Y Camcioglu, S Jacquot, K Payne, ... Journal of Experimental Medicine 213 (11), 2413-2435, 2016 | 117 | 2016 |
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency R Lévy, F Gothe, M Momenilandi, T Magg, M Materna, P Peters, J Raedler, ... Journal of Experimental Medicine 220 (2), 2023 | 12 | 2023 |
Ikaros is a principal regulator of Aire+ mTEC homeostasis, thymic mimetic cell diversity, and central tolerance JH Sin, J Sucharov, S Kashyap, Y Wang, I Proekt, X Liu, AV Parent, ... Science Immunology 8 (88), eabq3109, 2023 | 1 | 2023 |