By Dr Etienne Noel Masle-Farquhar

Journal articles

Munoz MA; Schuster IS; Cremasco J; Masle-Farquhar EN; Skinner OP; Vandeleur ZJ; Biro M; Kempe D; Renton WD; Mehr S; Abell-King C; Tay SS; Chai RC; Ojaimi S; Zaunders JJ; Rao G; Castro-Martinez A; van de Corput L; McCorkindale AN; Goldstein LD; Li X; Wouters F; Kastner DL; Chua I; Fewings NL; McKay FC; Mulders-Manders CM; Brink RA; Tangye SG; Aksentijevich I; Ma CS; van der Hilst J; Frenkel J; Degli-Esposti MA; Rogers MJ, 2026, 'NK cell dysfunction and interferon-γ production underlie autoinflammation in mevalonate kinase deficiency', Immunity, 59, pp. 1726 - 1742.e8, http://dx.doi.org/10.1016/j.immuni.2026.03.027

Forkgen J; Masle-Farquhar E; Fontaine Y; Russell A; Ji S; Peters TJ; Qiao Z; Geaghan M; Jackson KJL; Hammond JM; Deveson IW; David C; Lemberg DA; Gupta N; Fuentes-Bolanos N; Mustjoki S; Hwa V; Tangye SG; Gray PE; Siggs OM, 2026, 'Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity', Journal of Allergy and Clinical Immunology, 157, pp. 1218 - 1223.e3, http://dx.doi.org/10.1016/j.jaci.2026.01.018

Jara CJ; Zachariah S; Jackson KJL; Peters TJ; Masle-Farquhar E; Burnett DL; Lam E; Faulks M; Russell A; Miosge L; Smith S; Tscharke DC; Brink R; Goodnow CC; Reed JH, 2025, 'Convergent mutation trajectories convert functional self-tolerance in IGHV4-34 B cells to genetic tolerance encoded in the antibody', Proceedings of the National Academy of Sciences of the United States of America, 122, http://dx.doi.org/10.1073/pnas.2522257122

Barnet MB; Jackson KJL; Masle-Farquhar E; Russell A; Burnett DL; Chye A; Jara CJ; Faulks M; Mawson A; Peters TJ; Brink R; Wright K; Allen I; Junankar S; Davis ID; Heller G; Khan Z; Bruce J; Yang C; Prokopec S; Pugh T; Behren A; Hold GL; Zhang F; Cooper WA; Gao B; Nagrial A; Joshua AM; John T; Peters G; Hui R; Boyer M; Blinman PL; Kao SC; Cebon J; Goodnow CC, 2025, 'Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy', Proceedings of the National Academy of Sciences of the United States of America, 122, http://dx.doi.org/10.1073/pnas.2314258122

Ham H; Jing H; Lamborn IT; Kober MM; Koval A; Berchiche YA; Anderson DE; Druey KM; Mandl JN; Isidor B; Ferreira CR; Freeman AF; Ganesan S; Karsak M; Mustillo PJ; Teo J; Zolkipli-Cunningham Z; Chatron N; Lecoquierre F; Oler AJ; Schmid JP; Kuhns DB; Xu X; Hauck F; Al-Herz W; Wagner M; Terhal PA; Muurinen M; Barlogis V; Cruz P; Danielson J; Stewart H; Loid P; Rading S; Keren B; Pfundt R; Zarember KA; Vill K; Potocki L; Olivier KN; Lesca G; Faivre L; Wong M; Puel A; Chou J; Tusseau M; Moutsopoulos NM; Matthews HF; Simons C; Taft RJ; Soldatos A; Masle-Farquhar E; Pittaluga S; Brink R; Fink DL; Kong HH; Kabat J; Kim WS; Bierhals T; Meguro K; Hsu AP; Gu J; Stoddard J; Banos-Pinero B; Slack M; Trivellin G; Mazel B; Soomann M; Li S; Watts VJ; Stratakis CA; Rodriguez-Quevedo MF; Bruel AL; Lipsanen-Nyman M; Saultier P; Jain R; Lehalle D; Torres D; Sullivan KE; Barbarot S; Neu A; Duffourd Y; Similuk M; McWalter K; Blanc P; Bézieau S; Jin T; Geha RS; Casanova JL; Makitie OM; Kubisch C; Edery P; Christodoulou J; Germain RN; Goodnow CC; Sakmar TP; Billadeau DD; Küry S; Katanaev VL; Zhang Y, 2024, 'Germline mutations in a G protein identify signaling cross-talk in T cells', Science, 385, http://dx.doi.org/10.1126/science.add8947

Lowe K; Kasparian J; Small A; Weedon H; Masle-Farquhar E; Singh M; Proudman SM; Smith MD; Wechalekar M, 2024, 'POS1224 CHARACTERISATION OF SIGNALLING LYMPHOCYTIC ACTIVATION MOLECULES (SLAM) IN PATIENTS WITH EARLY RHEUMATOID ARTHRITIS', Annals of the Rheumatic Diseases, 83, pp. 718 - 719, http://dx.doi.org/10.1136/annrheumdis-2024-eular.620

Barnet M; Masle-Farquhar E; Singh M; Burnett DL, 2023, 'Blood and guts: peripheral immune correlates of immunotherapy-induced colitis', Immunology and Cell Biology, 101, pp. 12 - 15, http://dx.doi.org/10.1111/imcb.12604

Masle-Farquhar E; Jeelall Y; White J; Bier J; Deenick EK; Brink R; Horikawa K; Goodnow CC, 2023, 'CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells', Frontiers in Immunology, 14, http://dx.doi.org/10.3389/fimmu.2023.1095257

Masle-Farquhar E; Jackson KJL; Peters TJ; Al-Eryani G; Singh M; Payne KJ; Rao G; Avery DT; Apps G; Kingham J; Jara CJ; Skvortsova K; Swarbrick A; Ma CS; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O'Sullivan M; Cooper MA; Seppänen MRJ; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, 2022, 'STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation', Immunity, 55, pp. 2386 - 2404.e8, http://dx.doi.org/10.1016/j.immuni.2022.11.001

Ho WHJ; Law AMK; Masle-Farquhar E; Castillo LE; Mawson A; O’Bryan MK; Goodnow CC; Gallego-Ortega D; Oakes SR; Ormandy CJ, 2022, 'Activation of the viral sensor oligoadenylate synthetase 2 (Oas2) prevents pregnancy-driven mammary cancer metastases', Breast Cancer Research, 24, http://dx.doi.org/10.1186/s13058-022-01525-z

Munoz MA; Skinner OP; Masle-Farquhar E; Jurczyluk J; Xiao Y; Fletcher EK; Kristianto E; Hodson MP; O’Donoghue SI; Kaur S; Brink R; Zahra DG; Deenick EK; Perry KA; Robertson AAB; Mehr S; Hissaria P; Mulders-Manders CM; Simon A; Rogers MJ, 2022, 'Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency', Journal of Clinical Investigation, 132, http://dx.doi.org/10.1172/JCI160929

Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, 2022, 'Uncontrolled CD21low age-associated and B1 B cell accumulation caused by failure of an EGR2/3 tolerance checkpoint', Cell Reports, 38, http://dx.doi.org/10.1016/j.celrep.2021.110259

Masle-Farquhar E; Russell A; Li Y; Zhu F; Rui L; Brink R; Goodnow CC, 2021, 'Loss-of-function of Fbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice', Plos One, 16, http://dx.doi.org/10.1371/journal.pone.0237830

Masle-Farquhar E; Payne K; Singh M; Rao G; Al-Eryani G; Jara C; Jackson K; Brink RA; Tangye S; Reed J; Goodnow CC, 2020, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cells', The Journal of Immunology, 204, pp. 142.35 - 142.35, http://dx.doi.org/10.4049/jimmunol.204.supp.142.35

Singh M; Jackson KJL; Wang JJ; Schofield P; Field MA; Koppstein D; Peters TJ; Burnett DL; Rizzetto S; Nevoltris D; Masle-Farquhar E; Faulks ML; Russell A; Gokal D; Hanioka A; Horikawa K; Colella AD; Chataway TK; Blackburn J; Mercer TR; Langley DB; Goodall DM; Jefferis R; Gangadharan Komala M; Kelleher AD; Suan D; Rischmueller M; Christ D; Brink R; Luciani F; Gordon TP; Goodnow CC; Reed JH, 2020, 'Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody', Cell, 180, pp. 878 - 894.e19, http://dx.doi.org/10.1016/j.cell.2020.01.029

Stirzaker C; Skvortsova K; Masle-Farquhar E; Goodnow C; Clark SJ, 2020, 'Epigenetic changes during tumour development – Functional epigenetics study', Pathology, 52, pp. s29, http://dx.doi.org/10.1016/j.pathol.2020.01.121

Skvortsova K; Masle-Farquhar E; Luu PL; Song JZ; Qu W; Zotenko E; Gould CM; Du Q; Peters TJ; Colino-Sanguino Y; Pidsley R; Nair SS; Khoury A; Smith GC; Miosge LA; Reed JH; Kench JG; Rubin MA; Horvath L; Bogdanovic O; Lim SM; Polo JM; Goodnow CC; Stirzaker C; Clark SJ, 2019, 'DNA Hypermethylation Encroachment at CpG Island Borders in Cancer Is Predisposed by H3K4 Monomethylation Patterns', Cancer Cell, 35, pp. 297 - 314.e8, http://dx.doi.org/10.1016/j.ccell.2019.01.004

Burnett DL; Parish IA; Masle-Farquhar E; Brink R; Goodnow CC, 2017, 'Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation', Immunology and Cell Biology, 95, pp. 775 - 788, http://dx.doi.org/10.1038/icb.2017.50

Masle-Farquhar E; Bröer A; Yabas M; Enders A; Bröer S, 2017, 'ASCT2 (SLC1A5)-deficient mice have normal B-cell development, proliferation, and antibody production', Frontiers in Immunology, 8, http://dx.doi.org/10.3389/fimmu.2017.00549

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