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

Conference Papers

Barnet MB; Masle-Farquhar E; Russell A; Burnett DL; Jackson KJL; Brink R; Heller G; Yang C; Prokopec S; Behren A; Davis ID; Peters GD; Boyer MJ; John T; Nagrial A; Gao B; Blinman P; Kao SC-H; Cebon JS; Goodnow CC, 2023, 'Association of common inherited NOD2 mutations with exceptional response to immune checkpoint inhibitors', in JOURNAL OF CLINICAL ONCOLOGY, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 02 June 2023 - 06 June 2023

Masle-Farquhar E; Peters T; Oakes C; Reed J; Goodnow CC, 2021, 'EGR2 and EGR3 function in a cell-intrinsic and partially redundant manner to suppress the accumulation of B1a cells and CD21(low) CD23(low) age-associated B cells', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713665800392&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, HI, Honolulu, presented at Annual Meeting of the American-Association-of-Immunologists - Immunology 2020, HI, Honolulu, 08 May 2020 - 12 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000589972401141&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Conference Abstracts

Al-Eryani G; van der Leij S; Masle-Farquhar E; Andersson A; Harvey K; Wu S; Wang T; Reeves J; Ma C; Roden DL; Perou CM; Hacohen N; Al’Khafaji A; Nilsson M; Lundeberg J; Batten M; Junankar S; Swarbrick A, 2026, 'Abstract 7411: Proteotranscriptomic dissection of breast cancer T cell states identifies CD103+ Tfh-derived cytotoxic CD4+ cells linked to immunotherapy response', in Cancer Research, American Association for Cancer Research (AACR), Vol. 86, pp. 7411 - 7411, http://dx.doi.org/10.1158/1538-7445.am2026-7411

Masle-Farquhar E; Peters T; Jackson K; Bowen B; Avery D; Schmitt E; Jara C; Moxon A; Mackie J; Faulks ML; Singh M; Forster A; Suan D; Uzel G; Abolhassani H; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Seppänen M; Mustjoki S; Brothers S; Vogel T; Cooper M; Siggs O; Ma C; McNaughton P; Brink R; Powell J; Tangye S; Reed J; Goodnow C, 2025, 'Overactive STAT3 Dysregulates BCR Signalling and Drives Accumulation and Autoreactivity of Disease-Associated CD21low B Cells', in Journal of Human Immunity, Rockefeller University Press, Vol. 1, http://dx.doi.org/10.70962/ascia2025abstract.p162

Barnet MB; Masle-Farquhar E; Russell A; Burnett DL; Jackson KJL; Brink R; Heller G; Yang C; Prokopec S; Behren A; Davis ID; Peters GD; Boyer MJ; John T; Nagrial A; Gao B; Blinman P; Kao SC-H; Cebon JS; Goodnow CC, 2023, 'Association of common inherited NOD2 mutations with exceptional response to immune checkpoint inhibitors.', in Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 41, pp. 2514 - 2514, http://dx.doi.org/10.1200/jco.2023.41.16_suppl.2514

Masle-Farquhar E; Payne K; Jackson K; Rao G; Singh M; El-Eryani G; Brink R; Tangye S; Reed J; Goodnow C, 2019, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cell development and function', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY, PEOPLES R CHINA, Beijing, Vol. 49, pp. 901 - 901, presented at 17th International Congress of Immunology of the International-Union-of-Immunological-Societies (IUIS), PEOPLES R CHINA, Beijing, 19 October 2019 - 23 October 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000490026902546&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Preprints

Fontaine Y; Aradhya S; Ji S; Masle-Farquhar E; Bosi I; Forkgen J; Qiao Z; Stevanovski I; Reis ALM; Rapadas M; Suan D; Hsu P; Wainstein B; Hewitt A; Figtree G; Deveson I; Siggs O, 2025, Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing, http://dx.doi.org/10.1101/2025.05.08.25327265

Munoz M; Skinner O; Masle-Farquhar E; Jurczyluk J; Xiao Y; Fletcher E; Kristianto E; Hodson M; O’Donoghue S; Kaur S; Brink R; Zahra D; Deenick E; Perry K; Robertson AAB; Mehr S; Hissaria P; Mulders-Manders C; Simon A; Rogers M, 2022, Increased core body temperature exacerbates defective protein prenylation in mouse avatars of mevalonate kinase deficiency, http://dx.doi.org/10.1101/2022.02.28.480959

Masle-Farquhar E; Peters TJ; Jackson KJ; Singh M; S. C; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MR; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, 2021, Overactive STAT3 Drives Accumulation of Disease-Associated CD21 ^low B Cells, http://dx.doi.org/10.2139/ssrn.3996405

Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, 2021, Uncontrolled CD21 ^low Age-Associated and B1 B Cell Accumulation Caused by Failure of an EGR2/3 Tolerance Checkpoint, http://dx.doi.org/10.2139/ssrn.3885243

Ho W-HJ; Law A; Masle-Farquhar E; Castillo L; Mawson A; O’Bryan M; Goodnow C; Ortega DG; Oakes S; Ormandy C, 2021, Activation of the viral sensor oligoadenylate synthetase 2 (Oas2) prevents pregnancy-driven mammary cancer metastases, http://dx.doi.org/10.21203/rs.3.rs-842107/v1

Al-Eryani G; Bartonicek N; Chan C-L; Anderson A; Harvey K; Wu SZ; Roden D; Wang T; Reeves J; Yeung BZ; Masle-Farquhar E; Goodnow CC; Ma C; Phan TG; Lundeberg J; Junankar S; Swarbrick A, Integration of single-cell RNA and protein data identifies novel clinically-relevant lymphocyte phenotypes in breast cancers, http://dx.doi.org/10.1101/2022.05.31.494081

Kavanagh D; Steel A; King HE; Vieira HGS; Kumar KR; Masle-Farquhar E; King C; Skvortsova K; Weatheritt R, Lineage-specific X chromosome inactivation escape and skew underlie sex-biased immune gene dosage and deleterious variant exposure, http://dx.doi.org/10.64898/2026.08.26.739472

Masle-Farquhar E; Russell A; Li Y; Zhu F; Rui L; Brink R; Goodnow CC, 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, http://dx.doi.org/10.1101/2020.08.05.237545

Masle-Farquhar E; Peters T; Jackson KJ; Singh M; S C; Suan D; Uzel G; Chua I; Leiding JW; Heiskanen K; Preece K; Kainulainen L; O’Sullivan M; Cooper MA; Seppänen MR; Mustjoki S; Brothers S; Vogel TP; Brink R; Tangye SG; Reed JH; Goodnow CC, Overactive STAT3 drives accumulation of disease-associated CD21low B cells, http://dx.doi.org/10.1101/2021.12.20.473595

Al-Eryani G; Van Der Leij S; Masle-Farquhar E; Chan C-L; Harvey K; Wu SZ; Roden D; Wang T; Reeves J; Yeung BZ; Goodnow CC; Ma CS; Perou CM; Hacohen N; Al'Khafaji AM; Nilsson M; Lundeberg J; Batten M; Junankar S; Swarbrick A, Proteotranscriptomic Dissection of Breast Cancer T Cell States Identifies CD103+ Tfh-derived Cytotoxic Cells Linked to Immunotherapy Response, http://dx.doi.org/10.21203/rs.3.rs-8394722/v1

Forkgen J; Masle-Farquhar E; Fontaine Y; Russell A; Ji S; Peters TJ; Qiao Z; Geaghan M; Jackson KJ; Hammond JM; Deveson IW; David C; Lemberg DA; Gupta N; Fuentes-Bolanos N; Mustjoki S; Hwa V; Tangye SG; Gray PE; Siggs OM, Sequential mosaic variants in KRAS and STAT5B associated with a mixed phenotype of two acquired errors of immunity, http://dx.doi.org/10.1101/2024.08.07.24311150

Li M; Safavi A; Samir J; Louie R; Roohparvar Basmenj E; Bonomi M; Adikari T; Gloss B; Xing J; Jackson K; Calcino A; Suan D; Vaira V; Milthorpe C; Hardy M; Masle-Farquhar E; Read S; Field M; Elli L; Lenti MV; Di Sabatino A; Ciccocioppo R; Tye-Din JA; Ahlenstiel G; Goodnow CC; Singh M; Luciani F, Single-cell multi-omics maps clonal IEL expansion and epithelial remodelling in refractory coeliac disease, http://dx.doi.org/10.64898/2026.08.30.747985

Masle-Farquhar E; Jackson KJL; Peters TJ; Al-Eryani G; Singh M; Payne KJ; Rao G; Apps G; Kingham J; Jara CJ; Skvortsova K; Swarbrick A; S. C; 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, STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2Dhi CD8 killer T cells, http://dx.doi.org/10.1101/2022.02.11.480027

Masle-Farquhar E; Peters TJ; Miosge LA; Parish IA; Weigel C; Oakes CC; Reed JH; Goodnow CC, Uncontrolled CD21low age-associated and B1 B cell accumulation caused by failure of an EGR2/3 tolerance checkpoint, http://dx.doi.org/10.1101/2021.07.01.450650

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