Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Stuart G. Tangye, Waleed Al–Herz, Aziz Bousfiha et al. · Journal of Clinical Immunology · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Immunology +16

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha, Abderrahmane Moundir, Stuart G. Tangye et al. · Journal of Clinical Immunology · 2022 · 492 citations · Full text

Life Sciences, Genetics, Immunology +8

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Alexandra Y. Kreins, Michael J. Ciancanelli, Satoshi Okada et al. · The Journal of Experimental Medicine · 2015 · 356 citations

Life Sciences, Dermatology, Immunology +17

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Vivien Béziat, Juan Li, Jian‐Xin Lin et al. · Science Immunology · 2018 · 191 citations · Full text

Life Sciences, Genetics, Immunology +16