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Page 1
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagarić I, Materna M, Gervais A, Li H, Rosain J, Peel JN, Seeleuthner Y, Han JE, L'Honneur AS, Moncada-Vélez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Saxen H, ElGhazali G, Yatim A, Soudée C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Béziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL. Bohlen J, et al. Among authors: materna m. Cell. 2023 Nov 9;186(23):5114-5134.e27. doi: 10.1016/j.cell.2023.09.024. Epub 2023 Oct 23. Cell. 2023. PMID: 37875108 Free PMC article.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
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. Rosain J, et al. Among authors: materna m. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
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, Maglorius Renkilaraj MRL, 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. Philippot Q, et al. Among authors: materna m. Sci Immunol. 2023 Feb 17;8(80):eabq5204. doi: 10.1126/sciimmunol.abq5204. Epub 2023 Feb 10. Sci Immunol. 2023. PMID: 36763636 Free PMC article.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
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. Béziat V, et al. Among authors: materna m. Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1. Cell. 2021. PMID: 34214472 Free PMC article.
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine.
Bastard P, Michailidis E, Hoffmann HH, Chbihi M, Le Voyer T, Rosain J, Philippot Q, Seeleuthner Y, Gervais A, Materna M, de Oliveira PMN, Maia MLS, Dinis Ano Bom AP, Azamor T, Araújo da Conceição D, Goudouris E, Homma A, Slesak G, Schäfer J, Pulendran B, Miller JD, Huits R, Yang R, Rosen LB, Bizien L, Lorenzo L, Chrabieh M, Erazo LV, Rozenberg F, Jeljeli MM, Béziat V, Holland SM, Cobat A, Notarangelo LD, Su HC, Ahmed R, Puel A, Zhang SY, Abel L, Seligman SJ, Zhang Q, MacDonald MR, Jouanguy E, Rice CM, Casanova JL. Bastard P, et al. Among authors: materna m. J Exp Med. 2021 Apr 5;218(4):e20202486. doi: 10.1084/jem.20202486. J Exp Med. 2021. PMID: 33544838 Free PMC article.
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu Z, Garcia Reino EJ, Harschnitz O, Guo H, Chan YH, Khobrekar NV, Hasek ML, Dobbs K, Rinchai D, Materna M, Matuozzo D, Lee D, Bastard P, Chen J, Lee YS, Kim SK, Zhao S, Amin P, Lorenzo L, Seeleuthner Y, Chevalier R, Mazzola L, Gay C, Stephan JL, Milisavljevic B, Boucherit S, Rozenberg F, Perez de Diego R, Dix RD, Marr N, Béziat V, Cobat A, Aubart M, Abel L, Chabrier S, Smith GA, Notarangelo LD, Mocarski ES, Studer L, Casanova JL, Zhang SY. Liu Z, et al. Among authors: materna m. Sci Immunol. 2023 Apr 21;8(82):eade2860. doi: 10.1126/sciimmunol.ade2860. Epub 2023 Apr 21. Sci Immunol. 2023. PMID: 37083451 Free PMC article.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort… See abstract for full author list ➔ Asano T, et al. Among authors: materna m. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.
Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Aranda-Guillén M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Al-Ali F, Pescarmona R, Belot A, Béziat V, Zhang Q, Casanova JL, Kämpe O, Zhang SY, Hammarström L, Pan-Hammarström Q. Abolhassani H, et al. Among authors: materna m. J Clin Immunol. 2022 Apr;42(3):471-483. doi: 10.1007/s10875-022-01215-7. Epub 2022 Jan 28. J Clin Immunol. 2022. PMID: 35091979 Free PMC article.
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
Darazam IA, Hakamifard A, Momenilandi M, Materna M, Gharehbagh FJ, Shahrooei M, Olyaei NA, Zerehpoosh FB, Fayand A, Hatami F, Lotfollahi L, Mansouri N, Casanova JL, Béziat V, Mansouri D. Darazam IA, et al. Among authors: materna m. J Clin Immunol. 2023 Jan;43(1):217-228. doi: 10.1007/s10875-022-01374-7. Epub 2022 Oct 13. J Clin Immunol. 2023. PMID: 36227411
24 results