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Journal articles

Huynh A; E Gray P; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Della Mina E; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; H. Wainwright L; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; S Ma C; G. Tangye S, 2025, 'Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (Journal of Clinical Immunology, (2024), 44, 8, (170), 10.1007/s10875-024-01774-x)', Journal of Clinical Immunology, 45, http://dx.doi.org/10.1007/s10875-024-01801-x

Singh M; Louie RHY; Samir J; Field MA; Milthorpe C; Adikari T; Mackie J; Roper E; Faulks M; Jackson KJL; Calcino A; Hardy MY; Blombery P; Amos TG; Deveson IW; Wende HV; Floor SN; Read SA; Shek D; Guerin A; Ma CS; Tangye SG; Sabatino AD; Lenti MV; Pasini A; Ciccocioppo R; Ahlenstiel G; Suan D; Tye-Din JA; Goodnow CC; Luciani F, 2025, 'Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease', Science Translational Medicine, 17, http://dx.doi.org/10.1126/scitranslmed.adp6812

MacKie J; Suan D; McNaughton P; Haerynck F; O'Sullivan M; Guerin A; Ma CS; Tangye SG, 2025, 'Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.', Clinical and Experimental Immunology, 219, http://dx.doi.org/10.1093/cei/uxaf005

Huynh A; Gray PE; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Mina ED; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; Wainwright LH; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; Ma CS; Tangye SG, 2024, 'A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01774-x

Momenilandi M; Lévy R; Sobrino S; Li J; Lagresle-Peyrou C; Esmaeilzadeh H; Fayand A; Le Floc'h C; Guérin A; Mina ED; Shearer D; Delmonte OM; Yatim A; Mulder K; Mancini M; Rinchai D; Denis A; Neehus AL; Balogh K; Brendle S; Rokni-Zadeh H; Changi-Ashtiani M; Seeleuthner Y; Deswarte C; Bessot B; Cremades C; Materna M; Cederholm A; Ogishi M; Philippot Q; Beganovic O; Ackermann M; Wuyts M; Khan T; Fouéré S; Herms F; Chanal J; Palterer B; Bruneau J; Molina TJ; Leclerc-Mercier S; Prétet JL; Youssefian L; Vahidnezhad H; Parvaneh N; Claeys KG; Schrijvers R; Luka M; Pérot P; Fourgeaud J; Nourrisson C; Poirier P; Jouanguy E; Boisson-Dupuis S; Bustamante J; Notarangelo LD; Christensen N; Landegren N; Abel L; Marr N; Six E; Langlais D; Waterboer T; Ginhoux F; Ma CS; Tangye SG; Meyts I; Lachmann N; Hu J; Shahrooei M; Bossuyt X; Casanova JL; Béziat V, 2024, 'FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice', Cell, 187, pp. 2817 - 2837.e31, http://dx.doi.org/10.1016/j.cell.2024.04.009

Guérin A; Moncada-Vélez M; Jackson K; Ogishi M; Rosain J; Mancini M; Langlais D; Nunez A; Webster S; Goyette J; Khan T; Marr N; Avery DT; Rao G; Waterboer T; Michels B; Neves E; Morais CI; London J; Mestrallet S; Maire PQD; Neven B; Rapaport F; Seeleuthner Y; Lev A; Simon AJ; Montoya J; Barel O; Gómez-Rodríguez J; Orrego JC; L’honneur AS; Soudée C; Rojas J; Velez AC; Sereti I; Terrier B; Marin N; García LF; Abel L; Boisson-Dupuis S; Reis J; Marinho A; Lisco A; Faria E; Goodnow CC; Vasconcelos J; Béziat V; Ma CS; Somech R; Casanova JL; Bustamante J; Franco JL; Tangye SG, 2024, 'Helper T cell immunity in humans with inherited CD4 deficiency', Journal of Experimental Medicine, 221, http://dx.doi.org/10.1084/jem.20231044

Mackie J; Ma CS; Tangye SG; Guerin A, 2023, 'The ups and downs of STAT3 function: too much, too little and human immune dysregulation', Clinical and Experimental Immunology, 212, pp. 107 - 116, http://dx.doi.org/10.1093/cei/uxad007

Rosain J; Neehus AL; Manry J; Yang R; Le Pen J; Daher W; Liu Z; Chan YH; Tahuil N; Türel Ö; Bourgey M; Ogishi M; Doisne JM; Izquierdo HM; Shirasaki T; Le Voyer T; Guérin A; Bastard P; Moncada-Vélez M; Han JE; Khan T; Rapaport F; Hong SH; Cheung A; Haake K; Mindt BC; Pérez L; Philippot Q; Lee D; Zhang P; Rinchai D; Al Ali F; Ahmad Ata MM; Rahman M; Peel JN; Heissel S; Molina H; Kendir-Demirkol Y; Bailey R; Zhao S; Bohlen J; Mancini M; Seeleuthner Y; Roelens M; Lorenzo L; Soudée C; Paz MEJ; González ML; Jeljeli M; Soulier J; Romana S; L'Honneur AS; Materna M; Martínez-Barricarte R; Pochon M; Oleaga-Quintas C; Michev A; Migaud M; Lévy R; Alyanakian MA; Rozenberg F; Croft CA; Vogt G; Emile JF; Kremer L; Ma CS; Fritz JH; Lemon SM; Spaan AN; Manel N; Abel L; MacDonald MR; Boisson-Dupuis S; Marr N; Tangye SG; Di Santo JP; Zhang Q; Zhang SY; Rice CM; Béziat V; Lachmann N; Langlais D; Casanova JL; Gros P; Bustamante J, 2023, 'Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria', Cell, 186, pp. 621 - 645.e33, http://dx.doi.org/10.1016/j.cell.2022.12.038

Pelham SJ; Caldirola MS; Avery DT; Mackie J; Rao G; Gothe F; Peters TJ; Guerin A; Neumann D; Vokurkova D; Hwa V; Zhang W; Lyu SC; Chang I; Manohar M; Nadeau KC; Gaillard MI; Bezrodnik L; Iotova V; Zwirner NW; Gutierrez M; Al-Herz W; Goodnow CC; Vargas-Hernández A; Forbes Satter LR; Hambleton S; Deenick EK; Ma CS; Tangye SG, 2022, 'STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis', Journal of Allergy and Clinical Immunology, 150, pp. 931 - 946, http://dx.doi.org/10.1016/j.jaci.2022.04.011

Asano T; Khourieh J; Zhang P; Rapaport F; Spaan AN; Li J; Lei WT; Pelham SJ; Hum D; Chrabieh M; Han JE; Guérin A; Mackie J; Gupta S; Saikia B; Baghdadi JEI; Fadil I; Bousfiha A; Habib T; Marr N; Ganeshanandan L; Peake J; Droney L; Williams A; Celmeli F; Hatipoglu N; Ozcelik T; Picard C; Abel L; Tangye SG; Boisson-Dupuis S; Zhang Q; Puel A; Béziat V; Casanova JL; Boisson B, 2021, 'Human stat3 variants underlie autosomal dominant hyper-igesyndromebynegativedominance', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20202592

Oleaga-Quintas C; de Oliveira-Júnior EB; Rosain J; Rapaport F; Deswarte C; Guérin A; Sajjath SM; Zhou YJ; Marot S; Lozano C; Branco L; Fernández-Hidalgo N; Lew DB; Brunel AS; Thomas C; Launay E; Arias AA; Cuffel A; Monjo VC; Neehus AL; Marques L; Roynard M; Moncada-Vélez M; Gerçeker B; Colobran R; Vigué MG; Lopez-Herrera G; Berron-Ruiz L; Méndez NHS; O’Farrill Romanillos P; Le Voyer T; Puel A; Bellanné-Chantelot C; Ramirez KA; Lorenzo-Diaz L; Alejo NR; de Diego RP; Condino-Neto A; Mellouli F; Rodriguez-Gallego C; Witte T; Restrepo JF; Jobim M; Boisson-Dupuis S; Jeziorski E; Fieschi C; Vogt G; Donadieu J; Pasquet M; Vasconcelos J; Ardeniz FO; Martínez-Gallo M; Campos RA; Jobim LF; Martínez-Barricarte R; Liu K; Cobat A; Abel L; Casanova JL; Bustamante J, 2021, 'Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance', Journal of Clinical Immunology, 41, pp. 639 - 657, http://dx.doi.org/10.1007/s10875-020-00930-3

Della Mina E; Guérin A; Tangye SG, 2021, 'Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity', Stem Cells, 39, pp. 389 - 402, http://dx.doi.org/10.1002/stem.3327

Kerner G; Rosain J; Guérin A; Al-Khabaz A; Oleaga-Quintas C; Rapaport F; Massaad MJ; Ding JY; Khan T; Ali FA; Rahman M; Deswarte C; Martinez-Barricarte R; Geha RS; Jeanne-Julien V; Garcia D; Chi CY; Yang R; Roynard M; Fleckenstein B; Rozenberg F; Boisson-Dupuis S; Ku CL; Seeleuthner Y; Béziat V; Marr N; Abel L; Al-Herz W; Casanova JL; Bustamante J, 2020, 'Inherited human IFN-γ deficiency underlies mycobacterial disease', Journal of Clinical Investigation, 130, pp. 3158 - 3171, http://dx.doi.org/10.1172/JCI135460

Oleaga-Quintas C; Deswarte C; Moncada-Vélez M; Metin A; Rao IK; Kanık-Yüksek S; Nieto-Patlán A; Guérin A; Gülhan B; Murthy S; Özkaya-Parlakay A; Abel L; Martínez-Barricarte R; De Diego RP; Boisson-Dupuis S; Kong XF; Casanova JL; Bustamante J, 2019, 'Erratum: A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon (Human Molecular Genetics (2018) DOI:10.1093/hmg/ddy275)', Human Molecular Genetics, 28, pp. 524, http://dx.doi.org/10.1093/hmg/ddy357

Oleaga-Quintas C; Deswarte C; Moncada-Vélez M; Metin A; Rao IK; Kanık-Yüksek S; Nieto-Patlán A; Guérin A; Gülhan B; Murthy S; Özkaya-Parlakay A; Abel L; Martínez-Barricarte R; De Diego RP; Boisson-Dupuis S; Kong XF; Casanova JL; Bustamante J, 2018, 'A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon', Human Molecular Genetics, 27, pp. 3919 - 3935, http://dx.doi.org/10.1093/hmg/ddy275

Guérin A; Kerner G; Marr N; Markle JG; Fenollar F; Wong N; Boughorbel S; Avery DT; Ma CS; Bougarn S; Bouaziz M; Béziat V; Della Mina E; Oleaga-Quintas C; Lazarov T; Worley L; Nguyen T; Patin E; Deswarte C; Martinez-Barricarte R; Boucherit S; Ayral X; Edouard S; Boisson-Dupuis S; Rattina V; Bigio B; Vogt G; Geissmann F; Quintana-Murci L; Chaussabel D; Tangye SG; Raoult D; Abel L; Bustamante J; Casanova JL, 2018, 'IRF4 haploinsufficiency in a family with Whipple's disease', Elife, 7, http://dx.doi.org/10.7554/eLife.32340

Béziat V; Li J; Lin JX; Ma CS; Li P; Bousfiha A; Pellier I; Zoghi S; Baris S; Keles S; Gray P; Du N; Wang Y; Zerbib Y; Lévy R; Leclercq T; About F; Lim AI; Rao G; Payne K; Pelham SJ; Avery DT; Deenick EK; Pillay B; Chou J; Guery R; Belkadi A; Guérin A; Migaud M; Rattina V; Ailal F; Benhsaien I; Bouaziz M; Habib T; Chaussabel D; Marr N; El-Benna J; Grimbacher B; Wargon O; Bustamante J; Boisson B; Müller-Fleckenstein I; Fleckenstein B; Chandesris MO; Titeux M; Fraitag S; Alyanakian MA; Leruez-Ville M; Picard C; Meyts I; Di Santo JP; Hovnanian A; Somer A; Ozen A; Rezaei N; Chatila TA; Abel L; Leonard WJ; Tangye SG; Puel A; Casanova JL, 2018, 'A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity', Science Immunology, 3, http://dx.doi.org/10.1126/sciimmunol.aat4956

Conti F; Lugo-Reyes SO; Blancas Galicia L; He J; Aksu G; Borges de Oliveira E; Deswarte C; Hubeau M; Karaca N; de Suremain M; Guérin A; Baba LA; Prando C; Guerrero GG; Emiroglu M; Öz FN; Yamazaki Nakashimada MA; Gonzalez Serrano E; Espinosa S; Barlan I; Pérez N; Regairaz L; Guidos Morales HE; Bezrodnik L; Di Giovanni D; Dbaibo G; Ailal F; Galicchio M; Oleastro M; Chemli J; Danielian S; Perez L; Ortega MC; Soto Lavin S; Hertecant J; Anal O; Kechout N; Al-Idrissi E; ElGhazali G; Bondarenko A; Chernyshova L; Ciznar P; Herbigneaux RM; Diabate A; Ndaga S; Konte B; Czarna A; Migaud M; Pedraza-Sánchez S; Zaidi MB; Vogt G; Blanche S; Benmustapha I; Mansouri D; Abel L; Boisson-Dupuis S; Mahlaoui N; Bousfiha AA; Picard C; Barbouche R; Al-Muhsen S; Espinosa-Rosales FJ; Kütükçüler N; Condino-Neto A; Casanova JL; Bustamante J, 2016, 'Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases', Journal of Allergy and Clinical Immunology, 138, pp. 241 - 248.e3, http://dx.doi.org/10.1016/j.jaci.2015.11.041

Preprints

Singh M; Louie RHY; Samir J; Field MA; Milthorpe C; Aldiriki T; Mackie J; Roper E; Faulks M; Jackson KJL; Calcino A; Hardy MY; Blombery P; Amos TG; Deveson IW; Read SA; Shek D; Guerin A; Ma CS; Tangye SG; Sabatino AD; Lenti MV; Pasini A; Ciccocioppo R; Ahlenstiel G; Suan D; Tye-Din JA; Goodnow CC; Luciani F, 2024, Expanded T cell clones with lymphoma driver somatic mutations in refractory celiac disease, http://dx.doi.org/10.1101/2024.03.17.24304320

Guérin A; Kerner G; Marr N; Markle JG; Fenollar F; Wong N; Boughorbel S; Avery DT; Ma CS; Bougarn S; Bouaziz M; Beziat V; Della Mina E; Lazarovt T; Worley L; Nguyen T; Patin E; Deswarte C; Martinez-Barricarte R; Boucherit S; Ayral X; Edouard S; Boisson-Dupuis S; Rattina V; Bigio B; Vogt G; Geissmann F; Quintana-Murci L; Chaussabel D; Tangye SG; Raoult D; Abel L; Bustamante J; Casanova J-L, 2017, IRF4 haploinsufficiency in a family with Whipple’s disease, http://dx.doi.org/10.1101/197145


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