Publications

• Albuquerque AS, Maimaris J, McKenna AJ, et al. Practical challenges for functional validation of STAT1 gain of function genetic variants. Clinical and Experimental Immunology. 2023;212(2):166-169. doi:10.1093/cei/uxad008
• Lawless D, Allen HL, Thaventhiran JED, et al. Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor. Journal of Allergy and Clinical Immunology. 2023;152(1):257-265. doi:10.1016/j.jaci.2023.01.035
• Rae W, Sowerby JM, Verhoeven D, et al. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. Science Immunology. 2022;7(74):eabn3800. doi:10.1126/sciimmunol.abn3800
• Körholz J, Gabrielyan A, Sowerby JM, et al. One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency. Frontiers in Immunology. 2021;12:680334. doi:10.3389/fimmu.2021.680334
• Thaventhiran JED, Lango Allen H, Burren OS, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):90-95. doi:10.1038/s41586-020-2265-1
• Sprenkeler EGG, Tool ATJ, Kreft IC, et al. Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees. British Journal of Haematology. 2020;191(5):930-934. doi:10.1111/bjh.17081
• Lorenzini T, Fliegauf M, Klammer N, et al. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. Journal of Allergy and Clinical Immunology. 2020;146(4):901-911. doi:10.1016/j.jaci.2019.11.051
• NIHR BioResource–Rare Diseases Consortium, Lawless D, Lango Allen H, et al. Predicting the Occurrence of Variants in RAG1 and RAG2. Journal of Clinical Immunology. 2019;39(7):688-701. doi:10.1007/s10875-019-00670-z
• Thomas DC, Charbonnier LM, Schejtman A, et al. EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. Journal of Allergy and Clinical Immunology. 2019;143(2):782-785.e1. doi:10.1016/j.jaci.2018.09.019
• Zhang Z, Gothe F, Pennamen P, et al. Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. Journal of Experimental Medicine. 2019;216(6):1311-1327. doi:10.1084/jem.20182304
• Spencer S, Köstel Bal S, Egner W, et al. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. Journal of Experimental Medicine. 2019;216(9):1986-1998. doi:10.1084/jem.20190344
• Tuijnenburg P, Lango Allen H, Burns SO, et al. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. Journal of Allergy and Clinical Immunology. 2018;142(4):1285-1296. doi:10.1016/j.jaci.2018.01.039
• Lawless D, Geier CB, Farmer JR, et al. Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. Journal of Allergy and Clinical Immunology. 2018;141(6):2303-2306. doi:10.1016/j.jaci.2018.02.007