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論文與著作(Publication)

1. A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1. Xiang Y, Sun S, Wang H, Lo CC, Wu J, Lei WT, Li F, Liu X, Dang N, Ku CL*, Guo J*. J Clin Immunol. 2025 Sep 30;45(1):137. doi: 10.1007/s10875-025-01937-4.
2. Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome. Ashihara K, Asano T, Takeuchi K, Noma K, Tsumura M, Wang W, Lei WT, Higo H, Kubo T, Mizoguchi Y, Karakawa S, Cobat A, Conil C, Toyofuku E, Sekine A, Imai K, Bogunovic D, Casanova JL, Ku CL, Béziat V, Okada S*. JCI Insight. 2025 Jun 17; 10(14): e190065. doi:10.1172/jci.insight.190065.
3. Chimeric autoantibody receptor T cells clonally eliminate B cells producing autoantibodies against IFN-γ. Peng JJ, Ding JY, Xu Y, Shih HP, Lin YN, Wu TY, Lo YF, Lo CC, Yeh CF, Kuo CY, Tu KH, Wang SY, Lei WT, Wu TS, Lin HS, Lee CH, Huang WC, Chen YC, Liu YM, Shi ZY, Chang YT, Syue LS, Chen PL, Teh SH, Chou CH, Ho MW, Chi CY, Ho PC*, Ku CL*. Sci Immunol. 2025 May 9; 10(107):eadm8186. doi: 10.1126/sciimmunol.adm8186.
4. Chen CB, Hung SI, Chang JW, Yang CK, Ma DH, Teng YC, Lu CW, Chen WT, Yang HY, Tsai CC, Wang CL, Chiang PH, Wu J, Tsai YW, Lu LY, Lin YY, Hui RC, Hsieh FM, Hsu CK, Lee CN, Chen YJ, Chen CC, Cui Y, Hsu HC, Chang YC, Chang CJ, Lin HC, Chang CJ, Lin YJ, Ku CL*, Wang CW*, Chung WH*. Immune checkpoint inhibitor-induced severe epidermal necrolysis mediated by macrophage-derived CXCL10 and abated by TNF blockade, Nat. Commun. 2024 Dec 30;15(1):10733. doi: 10.1038/s41467-024-54180-7
5. Lei WT, Lo YF, Tsumura M, Ding JY, Lo CC, Lin YN, Wang CW, Liu LH, Shih HP, Peng JJ, Wu TY, Chan YP, Kang CX, Wang SY, Kuo CY, Tu KH, Yeh CF, Chi CY, Hsieh JY, Chung WH, Okada S, Ku CL*. Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations, J. Clin. Immunol. 2024 Aug 23;44(8):184. doi:10.1007/s10875-024-01776-9.
6. Lo YF, Wang SY, Wu, YH, Ho MW, Yeh CF, Wu TY, Peng JJ, Lin YN, Ding JY, Shih HP, Lo CC, Chan YP, Rau CS, Kuo CY, Tu KH, Lei WT, Chen YC*, Ku CL*. The pathogenic role of anti-Granulocyte-Macrophage Colony-Stimulating Factor autoantibodies in the Nocardiosis with the central nervous system involvement. J. Clin. Immunol. 2024 Aug 12;44(8):176. doi: 10.1007/s10875-024-01775-w
7. Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G,Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L*, Casanova JL*, Cobat A*, Bolze A*. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300.
8. Peel JN, Yang R, Le Voyer T, Gervais A, Rosain J, Bastard P, Behere A, Cederholm A, Bodansky A, Seeleuthner Y, Conil C, Ding JY, Lei WT, Bizien L, Soudee C, Migaud M, Ogishi M, Yatim A, Lee D, Bohlen J, Perpoint T, Perez L, Messina F, Genet R, Karkowski L, Blot M, Lafont E, Toullec L, Goulvestre C, Mehlal-Sedkaoui S, Sallette J, Martin F, Puel A, Jouanguy E, Anderson MS, Landegren N, Tiberghien P, Abel L, Boisson-Dupuis S, Bustamante J, Ku CL, Casanova JL*. Rare neutralizing IFN-γ autoantibodies in HLA-DRB1* 15:02 or 16:02 individuals confer susceptibility to mycobacterial infections. J Clin Invest. 2024 Mar 12:e178263. doi: 10.1172/JCI178263.
9. Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet- Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A*, Casanova JL*. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children. J Exp Med. 2024 Feb 5; 221(2):e20231353. doi: 10.1084/jem.20231353.
10. Ng CY, Chan YP, Chiu YC, Shih HP, Lin YN, Chung PH, Huang JY, Chen HK, Chung WH, Ku CL*. Targeting the elevated IFN-γ in vitiligo patients by human anti- IFN-γ monoclonal antibody hampers direct cytototoxicity in melanocyte. J Dermatol Sci. 2023 Jun; S0923-1811(23)00113-5. doi: 10.1016/j.jdermsci.2023.04.006.
11. 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; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Bel…Casanova JL*. Autoantibodies against type I IFNs in humans with alternative NF-kappaB pathway deficiency. Nature. 2023 Nov; 623(7988):803-813. doi: 10.1038/s41586-023-06717-x.
12. García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J. Exp. Med. 2023 May 1; 220(5):e20220170. doi: 10.1084/jem.20220170.
13. Peng JJ, Wang L, Li Z, Ku CL*, Ho PC*. Metabolic challenges and interventions in CAR T cell therapy. Sci Immunol. 2023 Apr 14; 8(82):eabq3016. doi: 10.1126/sciimmunol.abq3016.
14. Matuozzo D et al. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2023 Apr;15(1):22. doi: 10.1186/s13073-023-01173-8.
15. Su HJ, Chan YP, Shen PC, Ku CL, Ng CY*. Anti-IL-17A antibody-associated de novo vitiligo: Case report and review of literature. Front. Immunol. 2023 Jan 18;13:1077681. doi: 10.3389/fimmu.2022.1077681.
16. Zhang Q, Pizzorno A, Miorin L, Bastard P, Gervais A, Le Voyer T, Bizien L, Manry J, Rosain J, Philippot Q, Goavec K, Padey SuB, Cupic A, Laurent E, Saker K, Vanker M, Sarekannu K, Effort CHG, Etablissement Francais du Sang Study G, Constances C, Study CD, Cerba HealthCare G, Lyon Antigrippe Working G, Group RIW, Garcia-Salum T, Ferres M, Le Corre N, Sanchez-Cespedes J, Balsera-Manzanero M, Carratala J, Retamar-Gentil P, Abelenda-Alonso G, Valiente A, Tiberghien P, Zins M, Debette S, Meyts I, Haerynck F, Castagnoli R, Notarangelo LD, Gonzalez-Granado LI, Dominguez-Pinilla N, Andreakos E, Triantafyllia V, Rodriguez-Gallego C, Sole-Violan J, Ruiz-Hernandez JJ, Rodriguez de Castro F, Ferreres J, Briones M, Wauters J, Vanderbeke L, Feys S, Kuo CY, Lei WT, Ku CL, Tal G, Etzioni A, Hanna S, Fournet T, Casalegno JS, Queromes G, Argaud L, Javouhey E, Rosa-Calatrava M, Cordero E, Aydillo T, Medina RA, Kisand K, Puel A, Jouanguy E, Abel L, Cobat A, Trouillet-Assant S, Garcia-Sastre A*, Casanova JL*. Autoantibodies against type I IFNs in patients with critical influenza pneumonia. J. Exp. Med. 2022 Nov 7; 219(11):doi:10.1084/jem.20220514.
17. Wang SY, Lo YF, Shih HP, Ho MW, Yeh CF, Peng JJ, Ting HT, Lin KH, Huang WC, Chen YC, Chiu YH, Hsu CW, Tseng YT, Wang LS, Lei WY, Lin CY, Aoh Y, Chou CH, Wu TY, Ding JY, Lo CC, Lin YN, Tu KH, Lei WT, Kuo CY, Chi CY, Ku CL*. Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte-Macrophage Colony-Stimulating Factor. J. Clin. Immunol. 2022 Nov; 42(8):1730-1741. doi:10.1007/s10875-022-01341-2.
18. Shih HP, Ding JY, Sotolongo Bellon J, Lo YF, Chung PH, Ting HT, Peng JJ, Wu TY, Lin CH, Lo CC, Lin YN, Yeh CF, Chen JB, Wu TS, Liu YM, Kuo CY, Wang SY, Tu KH, Ng CY, Lei WT, Tsai YH, Chen JH, Chuang YT, Huang JY, Rey FA, Chen HK, Chang TW, Piehler J, Chi CY, Ku CL*. Pathogenic autoantibodies to IFN-gamma act through the impedance of receptor assembly and Fcmediated response. J. Exp. Med. 2022 Sep; 219(9):e20212126. doi:10.1084/jem.20212126.
19. Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL*. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J. Exp. Med. 2022 Aug 1; 219(8):e20220131. doi: 10.1084/jem.20220131
20. Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, Karabela ŞN, Khan T, Kendir-Demirkol Y, Arias AA, Mansouri D, Marits P, Marr N, Migeotte I, Moens L, Ozcelik T, Pellier I, Sendel A, Şenoğlu, S, Shahrooei M, Smith CIE, Vandernoot I, Willekens K, Kart Yaşar K; COVID Human Genetic Effort; Bergman P, Abel L, Cobat A, Casanova JL*, Meyts I*, Bryceson YT*. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J. Exp. Med. 2022 Jul 4; 219(7):e20220202. doi: 10.1084/jem.20220202
21. Brodin P, Casari G, Townsend L, O'Farrelly C, Tancevski I, Löffler-Ragg J, Mogensen TH, Casanova JL*; COVID Human Genetic Effort. Studying severe long COVID to understand post-infectious disorders beyond COVID-19. Nat. Med. 2022 May; 28(5):879-882. doi: 10.1038/s41591-022-01766-7.
22. Hsieh HS, Gong YN, Chi CY, Hsieh SY, Chen WT, Ku CL, Cheng HT, Lin L, Sung CM. Gut microbiome profiles and associated metabolic pathways in patients of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies. Sci. Rep. 2022 Jun; 12(1):9126. doi:10.1038/s41598-022-13289-9.
23. Ng CY, Chiu YC, Chan YP, Lin YJ, Chung PH, Chung WH, Ku CL*. Skin Interstitial Fluid and Plasma Multiplex Cytokine Analysis Reveals IFN-g Signatures and Granzyme B as Useful Biomarker for Activity, Severity and Prognosis Assessment in Vitiligo. Front Immunol. 2022 Apr 7; 13:872458. doi: 10.3389/fimmu.2022.872458.
24. Brodin P, Casari G, Townsend L, O'Farrelly C, Tancevski I, Löffler-Ragg J, Mogensen TH, Casanova JL; COVID Human Genetic Effort. Studying severe long COVID to understand post-infectious disorders beyond COVID-19. Nat. Med. 2022 May. 28(5):879-882. doi: 10.1038/s41591-022-01766-7.
25. Chen YC, Weng SW, Ding JY, Lee CH, Ku CL, Huang WC, You HL, Huang WT. Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-g Autoantibodies. J. Clin. Immunol. 2022 Apr;42(3):672-683. doi: 10.1007/s10875-022-01210-y
26. Kuo CY, Ku CL*, Lim HK, Hsia SH, Lin JJ, Lo CC, Ding JY, Kuo RL, Casanova JL, Zhang SY, Chang LY*, Lin TY*. Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency. J. Clin. Immunol. 2022 Apr; 42(3):606-617. doi:10.1007/s10875-021-01170-9.
27. 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, Kolsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia Garcia A, 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-Borras 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, and Warnatz K. The expansion of human T-bet(high)CD21(low) B cells is T cell dependent. Sci Immunol. 2021 Oct 15; 6(64):eabh0891. doi: 10.1126/sciimmunol.abh0891.
28. Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021 Aug 19; 6(62):eabl4348. doi:10.1126/sciimmunol.abl4348.
29. Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, et. al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Sci Immunol. 2021 Aug 20; 6(62):10.1126/sciimmunol.abl4340.
30. Pai FT, Lu CY, Lin CH, Wang J, Huang MC, Liu CT, Song YC, Ku CL, Yen HR, Psoralea corylifolia L. Ameliorates Collagen-Induced Arthritis by Reducing Proinflammatory Cytokines and Upregulating Myeloid-Derived Suppressor Cells. Life (Basel). 2021 Jun 21; 11(6). doi:10.3390/life11060587.
31. Tu KH, Fan PY, Chen TD, Chuang WY, Wu CY, Ku CL, Tian YC, Yang CW, Fang JT, Yang HY. TAFRO Syndrome with Renal Thrombotic Microangiopathy: Insights into the Molecular Mechanism and Treatment Opportunities. Int. J. Mol. Sci. 2021 Jun 11; 22(12):6286. doi: 10.3390/ijms22126286.
32. Shih HP, Ding JY, Yeh CF, Chi CY*, Ku CL*. Anti-interferon-g autoantibody-associated immunodeficiency. Curr. Opin. Immunol. 2021 Oct; 72:206-214. doi:10.1016/j.coi.2021.05.007.
33. Chiang PH, Lin YJ, Chiu YC, Chung WH, Ku CL, Ng CY, Feasibility of oral tranexamic acid for vitiligo patients with melasma. Dermatol. Ther. 2021 Sep; 34(5):e15047. doi: 10.1111/dth.15047.
34. Ku CL*, Chen IT, Lai MZ, Infection-induced inflammation from specific inborn errors of immunity to COVID-19. FEBS J. 2021 Sep; 288(17):5021-5041. doi: 10.1111/febs.15961
35. Chen CB, Hsu TH, Chung-Yee Hui R, Lu CW, Chen WT, Chiang PH, Wang CW, Chuang SS, Yang JY, Yang SY, Chang SY, Hsiao YC, Kao KC, Hu HC, Wu TS, Hsu CW, Hui-Kang Ma D, Chen SY, Tian YC, Cheng CY, Chen CH, Chi MH, Wu MY, Liu RF, Wang CH, Chang YC, Lin JY, Ho HC, Yu-Wei Lin Y, Chang CJ, Lin YJ, Ku CL, Hung SI, Chung WH, Taiwan Severe Cutaneous Adverse Reaction C, Disseminated intravascular coagulation in Stevens-Johnson syndrome and toxic epidermal necrolysis. J. Am. Acad. Dermatol. 2021 Jun; 84(6):1782-1791. doi:10.1016/j.jaad.2020.08.065.
36. Chen CB, Kuo KL, Wang CW, Lu CW, Chung-Yee Hui R, Lu KL, Chang WC, Chen WT, Yun F, Teng YC, Lee HE, Lin JY, Ho HC, Chi MH, Yu-Wei Lin Y, Chang CJ, Lin Y, Jr., Ku CL, Hung SI, Chang YC, Chung WH, Taiwan Severe Cutaneous Adverse Reaction C, Detecting Lesional Granulysin Levels for Rapid Diagnosis of Cytotoxic T lymphocyte-Mediated Bullous Skin Disorders. J Allergy Clin Immunol Pract. 2021 Mar; 9(3):1327-1337 e1323. doi:10.1016/j.jaip.2020.09.048.