Simon J. Pelham

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Takaki Asano, Bertrand Boisson, Fanny Onodi et al. · Science Immunology · 2021 · 420 citations · Full text

Life Sciences, Immunology, Molecular Genetics +14

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

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

S. Cindy, Natalie Wong, Geetha Rao et al. · Journal of Allergy and Clinical Immunology · 2015 · 189 citations · Full text

Life Sciences, Genetics, Immunology +16

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel Lee, Jérémie Le Pen, Ahmad Yatim et al. · Science · 2022 · 167 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Masato Ogishi, Rui Yang, Caner Aytekin et al. · Nature Medicine · 2021 · 109 citations · Full text

Life Sciences, Genetics, Immunology +12