Cathal Steele

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Tanya Coulter, Anita Chandra, Chris M. Bacon et al. · Journal of Allergy and Clinical Immunology · 2016 · 450 citations · Full text

Medicine, Immunology, Pediatrics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Paul Tuijnenburg, Hana Lango Allen, Siobhan O. Burns et al. · Journal of Allergy and Clinical Immunology · 2018 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian Thalhammer, Gerhard Kindle, Alexandra Nieters et al. · Journal of Allergy and Clinical Immunology · 2021 · 170 citations · Full text

Life Sciences, Immunology, Infectious Diseases +10

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Manfred Fliegauf, Nils Klammer, Natalie Frede et al. · Journal of Allergy and Clinical Immunology · 2020 · 130 citations · Full text

Life Sciences, Genetics, Immunology +13