By Professor Cindy Ma

Journal articles

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

Bohlen J; Bagarić I; Vatovec T; Ogishi M; Ahmed SF; Cederholm A; Buetow L; Sobrino S; Floc’h CL; Arango-Franco CA; Seabra L; Michelet M; Barzaghi F; Leardini D; Saettini F; Vendemini F; Baccelli F; Catala A; Gambineri E; Veltroni M; la Red YAD; Rice GI; Consonni F; Berteloot L; Largeaud L; Conti F; Roullion C; Masson C; Bessot B; Seeleuthner Y; Le Voyer T; Rinchai D; Rosain J; Neehus AL; Erazo-Borrás L; Li H; Janda Z; Cho EJ; Muratore E; Soudée C; Lainé C; Delabesse E; Goulvestre C; Ma CS; Puel A; Tangye SG; André I; Bole-Feysot C; Abel L; Erlacher M; Zhang SY; Béziat V; Lagresle-Peyrou C; Six E; Pasquet M; Alsina L; Aiuti A; Zhang P; Crow YJ; Landegren N; Masetti R; Huang DT; Casanova JL; Bustamante J, 2024, 'Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation', Journal of Clinical Investigation, 134, http://dx.doi.org/10.1172/JCI181604

Arango-Franco CA; Ogishi M; Unger S; Delmonte OM; Orrego JC; Yatim A; Velasquez-Lopera MM; Zea-Vera AF; Bohlen J; Chbihi M; Fayand A; Sánchez JP; Rojas J; Seeleuthner Y; Le Voyer T; Philippot Q; Payne KJ; Gervais A; Erazo-Borrás LV; Correa-Londoño LA; Cederholm A; Gallón-Duque A; Goncalves P; Doisne JM; Horev L; Charmeteau-De Muylder B; Álvarez J; Arboleda DM; Pérez-Zapata L; Vásquez-Echeverri E; Moncada-Vélez M; López JA; Caicedo Y; Palterer B; Patiño PJ; Montoya CJ; Chaldebas M; Zhang P; Nguyen T; Ma CS; Jeljeli M; Alzate JF; Cabarcas F; Khan T; Rinchai D; Prétet JL; Boisson B; Marr N; Ibrahim R; Molho-Pessach V; Boisson-Dupuis S; Kiritsi D; Barata JT; Landegren N; Neven B; Abel L; Lisco A; Béziat V; Jouanguy E; Bustamante J; Di Santo JP; Tangye SG; Notarangelo LD; Cheynier R; Natsuga K; Arias AA; Franco JL; Warnatz K; Casanova JL; Puel A, 2024, 'IL-7–dependent and –independent lineages of IL-7R–dependent human T cells', Journal of Clinical Investigation, 134, http://dx.doi.org/10.1172/JCI180251

Arias AA; Neehus AL; Ogishi M; Meynier V; Krebs A; Lazarov T; Lee AM; Arango-Franco CA; Yang R; Orrego J; Corcini Berndt M; Rojas J; Li H; Rinchai D; Erazo-Borrás L; Han JE; Pillay B; Ponsin K; Chaldebas M; Philippot Q; Bohlen J; Rosain J; Le Voyer T; Janotte T; Amarajeeva K; Soudée C; Brollo M; Wiegmann K; Marquant Q; Seeleuthner Y; Lee D; Lainé C; Kloos D; Bailey R; Bastard P; Keating N; Rapaport F; Khan T; Moncada-Vélez M; Carmona MC; Obando C; Alvarez J; Cataño JC; Martínez-Rosado LL; Sanchez JP; Tejada-Giraldo M; L’Honneur AS; Agudelo ML; Perez-Zapata LJ; Arboleda DM; Alzate JF; Cabarcas F; Zuluaga A; Pelham SJ; Ensser A; Schmidt M; Velásquez-Lopera MM; Jouanguy E; Puel A; Krönke M; Ghirardello S; Borghesi A; Pahari S; Boisson B; Pittaluga S; Ma CS; Emile JF; Notarangelo LD; Tangye SG; Marr N; Lachmann N; Salvator H; Schlesinger LS; Zhang P; Glickman MS; Nathan CF; Geissmann F; Abel L; Franco JL; Bustamante J; Casanova JL; Boisson-Dupuis S, 2024, 'Tuberculosis in otherwise healthy adults with inherited TNF deficiency', Nature, 633, pp. 417 - 425, http://dx.doi.org/10.1038/s41586-024-07866-3

Le Voyer T; Maglorius Renkilaraj MRL; Moriya K; Lorenzo MP; Nguyen T; Gao L; Rubin T; Cederholm A; Ogishi M; Arango-Franco CA; Béziat V; Lévy R; Migaud M; Rapaport F; Itan Y; Deenick EK; Cortese I; Lisco A; Boztug K; Abel L; Boisson-Dupuis S; Boisson B; Frosk P; Ma CS; Landegren N; Celmeli F; Casanova JL; Tangye SG; Puel A, 2024, 'Inherited human RelB deficiency impairs innate and adaptive immunity to infection', Proceedings of the National Academy of Sciences of the United States of America, 121, http://dx.doi.org/10.1073/pnas.2321794121

Ma CS; Tangye SG, 2024, 'STAT3 gain of function: Too much of a good thing in the skin!', Journal of Experimental Medicine, 221, http://dx.doi.org/10.1084/jem.20240849

Gardner LS; Vaughan L; Avery DT; Meyts I; Ma CS; Tangye SG; Varikatt W; Lin MW, 2024, 'Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01712-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

Martin E; Winter S; Garcin C; Tanita K; Hoshino A; Lenoir C; Fournier B; Migaud M; Boutboul D; Simonin M; Fernandes A; Bastard P; Le Voyer T; Roupie AL; Ben Ahmed Y; Leruez-Ville M; Burgard M; Rao G; Ma CS; Masson C; Soudais C; Picard C; Bustamante J; Tangye SG; Cheikh N; Seppänen M; Puel A; Daly M; Casanova JL; Neven B; Fischer A; Latour S, 2024, 'Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency', Nature, 628, pp. 620 - 629, http://dx.doi.org/10.1038/s41586-024-07213-6

Mina ED; Jackson KJL; Crawford AJI; Faulks ML; Pathmanandavel K; Acquarola N; O’Sullivan M; Kerre T; Naesens L; Claes K; Goodnow CC; Haerynck F; Kracker S; Meyts I; D’Orsogna LJ; Ma CS; Tangye SG, 2024, 'A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01665-1

Tangye SG; Mackie J; Pathmanandavel K; Ma CS, 2024, 'The trajectory of human B-cell function, immune deficiency, and allergy revealed by inborn errors of immunity', Immunological Reviews, 322, pp. 212 - 232, http://dx.doi.org/10.1111/imr.13288

Li MWY; Burnett L; Dai P; Avery DT; Noori T; Voskoboinik I; Shah PR; Tatian A; Tangye SG; Gray PE; Ma CS, 2024, 'Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-023-01637-x

Pathmanandavel K; Tangye SG; Ma CS, 2024, 'Flow Cytometric Identification of Human IgE⁺ B Lineage Subsets', , 2826, pp. 189 - 199, http://dx.doi.org/10.1007/978-1-0716-3950-4_14

Noma K; Tsumura M; Nguyen T; Asano T; Sakura F; Tamaura M; Imanaka Y; Mizoguchi Y; Karakawa S; Hayakawa S; Shoji T; Hosokawa J; Izawa K; Ling Y; Casanova JL; Puel A; Tangye SG; Ma CS; Ohara O; Okada S, 2024, 'Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-023-01601-9

Pathmanandavel K; Jackson K; Le S; Alves M; Foley E; Tangye S; Ma C; Deenick E; Tong W; Carr A; Breit S; Sewell W; Kane A, 2024, 'Mucosal-associated invariant T (MAIT) cells exhibit restricted T cell receptor β constant region usage, obfuscating assessment of T cell clonality', Pathology, 56, pp. S114 - S114, http://dx.doi.org/10.1016/j.pathol.2023.12.376

Le Voyer T; Parent AV; Liu X; Cederholm A; Gervais A; Rosain J; Nguyen T; Perez Lorenzo M; Rackaityte E; Rinchai D; Zhang P; Bizien L; Hancioglu G; Ghillani-Dalbin P; Charuel JL; Philippot Q; Gueye MS; Maglorius Renkilaraj MRL; Ogishi M; Soudée C; Migaud M; Rozenberg F; Momenilandi M; Riller Q; Imberti L; Delmonte OM; Müller G; Keller B; Orrego J; Franco Gallego WA; Rubin T; Emiroglu M; Parvaneh N; Eriksson D; Aranda-Guillen M; Berrios DI; Vong L; Katelaris CH; Mustillo P; Raedler J; Bohlen J; Bengi Celik J; Astudillo C; Winter S; Boisson-Dupuis S; Oksenhendler E; Okada S; Caluseriu O; Ursini MV; Ballot E; Lafarge G; Freiberger T; Arango-Franco CA; Levy R; Aiuti A; Al-Muhsen S; Al-Mulla F; Andreakos E; Arias AA; Feldman HB; Bastard P; Bondarenko A; Borghesi A; Bousfiha AA; Brodin P; Bryceson Y; Casari G; Christodoulou J; Colobran R; Condino-Neto A; Fellay J; Flores C; Franco JL; Haerynck F; Halwani R; Hammarström L; Heath JR; Hsieh EWY; Itan Y; Kaja E; Kisand K; Ku CL; Ling Y; Lau YL; Mansouri D; Meyts I; Milner JD; Mogensen TH; Novelli A; Novelli G; Okamoto K; Ozcelik T; de Diego RP; Perez-Tur J; Perlin DS; Prando C; Pujol A; Quintana-Murci L; Renia L; Resnick I, 2023, 'Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency', Nature, 623, pp. 803 - 813, http://dx.doi.org/10.1038/s41586-023-06717-x

Nguyen T; Lau A; Bier J; Cooke KC; Lenthall H; Ruiz-Diaz S; Avery DT; Brigden H; Zahra D; Sewell WA; Droney L; Okada S; Asano T; Abolhassani H; Chavoshzadeh Z; Abraham RS; Rajapakse N; Klee EW; Church JA; Williams A; Wong M; Burkhart C; Uzel G; Croucher DR; James DE; Ma CS; Brink R; Tangye SG; Deenick EK, 2023, 'Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2', The Journal of experimental medicine, 220, http://dx.doi.org/10.1084/jem.20221020

Ma CS; Freeman AF; Fleisher TA, 2023, 'Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis', Journal of Allergy and Clinical Immunology: In Practice, 11, pp. 1579 - 1591, http://dx.doi.org/10.1016/j.jaip.2023.03.049

Ma CS; Tangye SG, 2023, 'Inborn errors of immunity: the Goldilocks effect—susceptibility to disease due to a little too much or a little too little', Clinical and Experimental Immunology, 212, pp. 93 - 95, http://dx.doi.org/10.1093/cei/uxad039

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

Tangye SG; Pathmanandavel K; Ma CS, 2023, 'Cytokine-mediated STAT-dependent pathways underpinning human B-cell differentiation and function', Current Opinion in Immunology, 81, http://dx.doi.org/10.1016/j.coi.2023.102286

Ma CS, 2023, 'T-helper-2 cells and atopic disease: lessons learnt from inborn errors of immunity', Current Opinion in Immunology, 81, http://dx.doi.org/10.1016/j.coi.2023.102298

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

Philippot Q; Ogishi M; Bohlen J; Puchan J; Arias AA; Nguyen T; Martin-Fernandez M; Conil C; Rinchai D; Momenilandi M; Mahdaviani SA; Keramatipour M; Rosain J; Yang R; Khan T; Neehus AL; Materna M; Han JE; Peel J; Mele F; Weisshaar M; Jovic S; Bastard P; Lévy R; Le Voyer T; Zhang P; Renkilaraj MRLM; Arango-Franco CA; Pelham S; Seeleuthner Y; Pochon M; Ata MMA; Al Ali F; Migaud M; Soudée C; Kochetkov T; Molitor A; Carapito R; Bahram S; Boisson B; Fieschi C; Mansouri D; Marr N; Okada S; Shahrooei M; Parvaneh N; Chavoshzadeh Z; Cobat A; Bogunovic D; Abel L; Tangye SG; Ma CS; Béziat V; Sallusto F; Boisson-Dupuis S; Bustamante J; Casanova JL; Puel A, 2023, 'Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria', Science Immunology, 8, http://dx.doi.org/10.1126/sciimmunol.abq5204

Tangye SG; Nguyen T; Deenick EK; Bryant VL; Ma CS, 2023, 'Inborn errors of human B cell development, differentiation, and function', Journal of Experimental Medicine, 220, http://dx.doi.org/10.1084/jem.20221105

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 NKG2D^hi CD8⁺ T cell dysregulation and accumulation', Immunity, 55, pp. 2386 - 2404.e8, http://dx.doi.org/10.1016/j.immuni.2022.11.001

Patel SK; Ma CS; Bell KJ; Oram R; Hagopian WA; Fourlanos S; Greenfield JR, 2022, 'Immunophenotype and genetic risk scores to improve autoantibody negative type 1 diabetes classification: study protocol', International Journal of Clinical Trials, 9, pp. 293 - 293, http://dx.doi.org/10.18203/2349-3259.ijct20222690

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

Yang R; Avery DT; Jackson KJL; Ogishi M; Benhsaien I; Du L; Ye X; Han J; Rosain J; Peel JN; Alyanakian MA; Neven B; Winter S; Puel A; Boisson B; Payne KJ; Wong M; Russell AJ; Mizoguchi Y; Okada S; Uzel G; Goodnow CC; Latour S; Bakkouri JE; Bousfiha A; Preece K; Gray PE; Keller B; Warnatz K; Boisson-Dupuis S; Abel L; Pan-Hammarström Q; Bustamante J; Ma CS; Casanova JL; Tangye SG, 2022, 'Human T-bet governs the generation of a distinct subset of CD11c^highCD21^low B cells', Science Immunology, 7, http://dx.doi.org/10.1126/sciimmunol.abq3277

Tangye SG; Gray PE; Pillay BA; Yap JY; Figgett WA; Reeves J; Kummerfeld SK; Stoddard J; Uzel G; Jing H; Su HC; Campbell DE; Sullivan A; Burnett L; Peake J; Ma CS, 2022, 'Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8', Journal of Clinical Immunology, 42, pp. 119 - 129, http://dx.doi.org/10.1007/s10875-021-01152-x

Yap JY; Moens L; Lin MW; Kane A; Kelleher A; Toong C; Wu KHC; Sewell WA; Phan TG; Hollway GE; Enthoven K; Gray PE; Casas-Martin J; Wouters C; De Somer L; Hershfield M; Bucciol G; Delafontaine S; Ma CS; Tangye SG; Meyts I, 2021, 'Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency', Journal of Clinical Immunology, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0

Tangye SG; Ma CS, 2021, 'Molecular regulation and dysregulation of T follicular helper cells – learning from inborn errors of immunity', Current Opinion in Immunology, 72, pp. 249 - 261, http://dx.doi.org/10.1016/j.coi.2021.06.011

Lévy R; Langlais D; Béziat V; Rapaport F; Rao G; Lazarov T; Bourgey M; Zhou YJ; Briand C; Moriya K; Ailal F; Avery DT; Markle J; Lim AI; Ogishi M; Yang R; Pelham S; Emam M; Migaud M; Deswarte C; Habib T; Saraiva LR; Moussa EA; Guennoun A; Boisson B; Belkaya S; Martinez-Barricarte R; Rosain J; Belkadi A; Breton S; Payne K; Benhsaien I; Plebani A; Lougaris V; Di Santo JP; Neven B; Abel L; Ma CS; Bousfiha AA; Marr N; Bustamante J; Liu K; Gros P; Geissmann F; Tangye SG; Casanova JL; Puel A, 2021, 'Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI150143

Ogishi M; Yang R; Aytekin C; Langlais D; Bourgey M; Khan T; Ali FA; Rahman M; Delmonte OM; Chrabieh M; Zhang P; Gruber C; Pelham SJ; Spaan AN; Rosain J; Lei WT; Drutman S; Hellmann MD; Callahan MK; Adamow M; Wong P; Wolchok JD; Rao G; Ma CS; Nakajima Y; Yaguchi T; Chamoto K; Williams SC; Emile JF; Rozenberg F; Glickman MS; Rapaport F; Kerner G; Allington G; Tezcan I; Cagdas D; Hosnut FO; Dogu F; Ikinciogullari A; Rao VK; Kainulainen L; Béziat V; Bustamante J; Vilarinho S; Lifton RP; Boisson B; Abel L; Bogunovic D; Marr N; Notarangelo LD; Tangye SG; Honjo T; Gros P; Boisson-Dupuis S; Casanova JL, 2021, 'Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child', Nature Medicine, 27, pp. 1646 - 1654, http://dx.doi.org/10.1038/s41591-021-01388-5

Eisenbarth SC; Baumjohann D; Craft J; Fazilleau N; Ma CS; Tangye SG; Vinuesa CG; Linterman MA, 2021, 'CD4⁺ T cells that help B cells – a proposal for uniform nomenclature', Trends in Immunology, 42, pp. 658 - 669, http://dx.doi.org/10.1016/j.it.2021.06.003

Cagdas D; Mayr D; Baris S; Worley L; Langley DB; Metin A; Aytekin ES; Atan R; Kasap N; Bal SK; Dmytrus J; Heredia RJ; Karasu G; Torun SH; Toyran M; Karakoc-Aydiner E; Christ D; Kuskonmaz B; Uçkan-Çetinkaya D; Uner A; Oberndorfer F; Schiefer AI; Uzel G; Deenick EK; Keller B; Warnatz K; Neven B; Durandy A; Sanal O; Ma CS; Özen A; Stepensky P; Tezcan I; Boztug K; Tangye SG, 2021, 'Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency', Journal of Clinical Immunology, 41, pp. 1272 - 1290, http://dx.doi.org/10.1007/s10875-021-01031-5

Béziat V; Rapaport F; Hu J; Titeux M; Bonnet des Claustres M; Bourgey M; Griffin H; Bandet É; Ma CS; Sherkat R; Rokni-Zadeh H; Louis DM; Changi-Ashtiani M; Delmonte OM; Fukushima T; Habib T; Guennoun A; Khan T; Bender N; Rahman M; About F; Yang R; Rao G; Rouzaud C; Li J; Shearer D; Balogh K; Al Ali F; Ata M; Dabiri S; Momenilandi M; Nammour J; Alyanakian MA; Leruez-Ville M; Guenat D; Materna M; Marcot L; Vladikine N; Soret C; Vahidnezhad H; Youssefian L; Saeidian AH; Uitto J; Catherinot É; Navabi SS; Zarhrate M; Woodley DT; Jeljeli M; Abraham T; Belkaya S; Lorenzo L; Rosain J; Bayat M; Lanternier F; Lortholary O; Zakavi F; Gros P; Orth G; Abel L; Prétet JL; Fraitag S; Jouanguy E; Davis MM; Tangye SG; Notarangelo LD; Marr N; Waterboer T; Langlais D; Doorbar J; Hovnanian A; Christensen N; Bossuyt X; Shahrooei M; Casanova JL, 2021, 'Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy', Cell, 184, pp. 3812 - 3828.e30, http://dx.doi.org/10.1016/j.cell.2021.06.004

Yang R; Weisshaar M; Mele F; Benhsaien I; Dorgham K; Han J; Croft CA; Notarbartolo S; Rosain J; Bastard P; Puel A; Fleckenstein B; Glimcher LH; Di Santo JP; Ma CS; Gorochov G; Bousfiha A; Abel L; Tangye SG; Casanova JL; Bustamante J; Sallusto F, 2021, 'High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20202726

Patel SK; Ma CS; Fourlanos S; Greenfield JR, 2021, 'Autoantibody-Negative Type 1 Diabetes: A Neglected Subtype', Trends in Endocrinology and Metabolism, 32, pp. 295 - 305, http://dx.doi.org/10.1016/j.tem.2021.02.001

Pillay BA; Fusaro M; Gray PE; Statham AL; Burnett L; Bezrodnik L; Kane A; Tong W; Abdo C; Winter S; Chevalier S; Levy R; Masson C; Schmitt Y; Bole C; Malphettes M; Macintyre E; de Villartay JP; Ziegler JB; Smart JM; Peake J; Aghamohammadi A; Hammarström L; Abolhassani H; Picard C; Fischer A; Latour S; Neven B; Tangye SG; Ma CS, 2021, 'Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency', Journal of Clinical Investigation, 131, http://dx.doi.org/10.1172/JCI142434

Keller B; Strohmeier V; Harder I; Unger S; Payne KJ; Andrieux G; Boerries M; Felixberger PT; Landry JJM; Nieters A; Rensing-Ehl A; Salzer U; Frede N; Usadel S; Elling R; Speckmann C; Hainmann I; Ralph E; Gilmour K; Wentink MWJ; van der Burg M; Kuehn HS; Rosenzweig SD; Kölsch U; von Bernuth H; Kaiser-Labusch P; Gothe F; Hambleton S; Vlagea AD; Garcia AG; Alsina L; Markelj G; Avcin T; Vasconcelos J; Guedes M; Ding JY; Ku CL; Shadur B; Avery DT; Venhoff N; Thiel J; Becker H; Erazo-Borrás L; Trujillo-Vargas CM; Franco JL; Fieschi C; Okada S; Gray PE; Uzel G; Casanova JL; Fliegauf M; Grimbacher B; Eibel H; Ehl S; Voll RE; Rizzi M; Stepensky P; Benes V; Ma CS; Bossen C; Tangye SG; Warnatz K, 2021, 'The expansion of human T-bet^highCD21^low B cells is T cell dependent', Science Immunology, 6, http://dx.doi.org/10.1126/sciimmunol.abh0891

Yang R; Mele F; Worley L; Langlais D; Rosain J; Benhsaien I; Elarabi H; Croft CA; Doisne JM; Zhang P; Weisshaar M; Jarrossay D; Latorre D; Shen Y; Han J; Ogishi M; Gruber C; Markle J; Al Ali F; Rahman M; Khan T; Seeleuthner Y; Kerner G; Husquin LT; Maclsaac JL; Jeljeli M; Errami A; Ailal F; Kobor MS; Oleaga-Quintas C; Roynard M; Bourgey M; El Baghdadi J; Boisson-Dupuis S; Puel A; Batteux F; Rozenberg F; Marr N; Pan-Hammarström Q; Bogunovic D; Quintana-Murci L; Carroll T; Ma CS; Abel L; Bousfiha A; Di Santo JP; Glimcher LH; Gros P; Tangye SG; Sallusto F; Bustamante J; Casanova JL, 2020, 'Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria', Cell, 183, pp. 1826 - 1847.e31, http://dx.doi.org/10.1016/j.cell.2020.10.046

Ghosh S; Bal SK; Edwards ESJ; Pillay B; Heredia RJ; Cipe FE; Rao G; Salzer E; Zoghi S; Abolhassani H; Momen T; Gostick E; Price DA; Zhang Y; Oler AJ; Gonzaga-Jauregui C; Erman B; Metin A; Ilhan I; Haskologlu S; Islamoglu C; Baskin K; Ceylaner S; Yilmaz E; Unal E; Karakukcu M; Berghuis D; Cole T; Gupta AK; Hauck F; Kogler H; Hoepelman AIM; Baris S; Karakoc-Aydiner E; Ozen A; Kager L; Holzinger D; Paulussen M; Krüger R; Meisel R; Oommen PT; Morris E; Neven B; Worth A; van Montfrans J; Fraaij PLA; Choo S; Dogu F; Graham Davies E; Burns S; Dückers G; Becker RP; von Bernuth H; Latour S; Faraci M; Gattorno M; Su HC; Pan-Hammarström Q; Hammarström L; Lenardo MJ; Ma CS; Niehues T; Aghamohammadi A; Rezaei N; Ikinciogullari A; Tangye SG; Lankester AC; Boztug K, 2020, 'Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency', Blood, 136, pp. 2638 - 2655, http://dx.doi.org/10.1182/BLOOD.2020006738

Payne K; Li W; Salomon R; Ma CS, 2020, 'OMIP-063: 28-Color Flow Cytometry Panel for Broad Human Immunophenotyping', Cytometry Part A, 97, pp. 777 - 781, http://dx.doi.org/10.1002/cyto.a.24018

Kong XF; Worley L; Rinchai D; Bondet V; Jithesh PV; Goulet M; Nonnotte E; Rebillat AS; Conte M; Mircher C; Gürtler N; Liu L; Migaud M; Elanbari M; Habib T; Ma CS; Bustamante J; Abel L; Ravel A; Lyonnet S; Munnich A; Duffy D; Chaussabel D; Casanova JL; Tangye SG; Boisson-Dupuis S; Puel A, 2020, 'Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome', Journal of Clinical Immunology, 40, pp. 807 - 819, http://dx.doi.org/10.1007/s10875-020-00803-9

Béziat V; Tavernier SJ; Chen YH; Ma CS; Materna M; Laurence A; Staal J; Aschenbrenner D; Roels L; Worley L; Claes K; Gartner L; Kohn LA; de Bruyne M; Schmitz-Abe K; Charbonnier LM; Keles S; Nammour J; Vladikine N; Renkilaraj MRLM; Seeleuthner Y; Migaud M; Rosain J; Jeljeli M; Boisson B; van Braeckel E; Rosenfeld JA; Dai H; Burrage LC; Murdock DR; Lambrecht BN; Avettand-Fenoel V; Vogel TP; Network UD; Esther CR; Haskologlu S; Dogu F; Ciznar P; Boutboul D; Ouachée-Chardin M; Amourette J; Lebras MN; Gauvain C; Tcherakian C; Ikinciogullari A; Beyaert R; Abel L; Milner JD; Grimbacher B; Couderc LJ; Butte MJ; Freeman AF; Catherinot É; Fieschi C; Chatila TA; Tangye SG; Uhlig HH; Haerynck F; Casanova JL; Puel A, 2020, 'Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem.2019180405272020c

Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Cai F; Dai P; Parker A; Qiu M; Miley W; Roshan R; Marshall V; Whitby D; Wegman E; Garsia R; Wu KHC; Kirk E; Polizzotto M; Deenick EK; Tangye SG; Ma CS; CIRCA ; Phan TG, 2020, 'Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency', Journal of Clinical Immunology, 40, pp. 774 - 779, http://dx.doi.org/10.1007/s10875-020-00804-8

Béziat V; Tavernier SJ; Chen YH; Ma CS; Materna M; Laurence A; Staal J; Aschenbrenner D; Roels L; Worley L; Claes K; Gartner L; Kohn LA; De Bruyne M; Schmitz-Abe K; Charbonnier LM; Keles S; Nammour J; Vladikine N; Renkilaraj MRLM; Seeleuthner Y; Migaud M; Rosain J; Jeljeli M; Boisson B; Van Braeckel E; Rosenfeld JA; Dai H; Burrage LC; Murdock DR; Lambrecht BN; Avettand-Fenoel V; Vogel TP; Esther CR; Haskologlu S; Dogu F; Ciznar P; Boutboul D; Ouachée-Chardin M; Amourette J; Lebras MN; Gauvain C; Tcherakian C; Ikinciogullari A; Beyaert R; Abel L; Milner JD; Grimbacher B; Couderc LJ; Butte MJ; Freeman AF; Catherinot É; Fieschi C; Chatila TA; Tangye SG; Uhlig HH; Haerynck F; Casanova JL; Puel A, 2020, 'Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem.20191804

Bucciol G; Pillay B; Casas-Martin J; Delafontaine S; Proesmans M; Lorent N; Coolen J; Tousseyn T; Bossuyt X; Ma CS; Schrijvers R; Tangye SG; Moens L; Meyts I, 2020, 'Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation', Journal of Clinical Immunology, 40, pp. 567 - 570, http://dx.doi.org/10.1007/s10875-020-00742-5

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