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27 results

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Page 1
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: kendir demirkol y. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S. Taghizade N, et al. Among authors: kendir demirkol y. J Allergy Clin Immunol. 2023 Dec;152(6):1634-1645. doi: 10.1016/j.jaci.2023.08.004. Epub 2023 Aug 16. J Allergy Clin Immunol. 2023. PMID: 37595759
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
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. Campbell TM, et al. Among authors: kendir demirkol y. J Exp Med. 2022 Jul 4;219(7):e20220202. doi: 10.1084/jem.20220202. Epub 2022 Jun 7. J Exp Med. 2022. PMID: 35670811 Free PMC article.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S. Bilgic Eltan S, et al. Among authors: kendir demirkol y. J Clin Immunol. 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. J Clin Immunol. 2023. PMID: 38129713
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
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. Zhang Q, et al. Among authors: kendir demirkol y. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, Lainé C, Seeleuthner Y, Ramírez-Alejo N, Nekooie-Marnany N, Guennoun A, Muller-Fleckenstein I, Fleckenstein B, Kilic SS, Minegishi Y, Ehl S, Kaiser-Labusch P, Kendir-Demirkol Y, Rozenberg F, Errami A, Zhang SY, Zhang Q, Bohlen J, Philippot Q, Puel A, Jouanguy E, Pourmoghaddas Z, Bakhtiar S, Willasch AM, Horneff G, Llanora G, Shek LP, Chai LYA, Tay SH, Rahimi HH, Mahdaviani SA, Nepesov S, Bousfiha AA, Erdeniz EH, Karbuz A, Marr N, Navarrete C, Adeli M, Hammarstrom L, Abolhassani H, Parvaneh N, Al Muhsen S, Alosaimi MF, Alsohime F, Nourizadeh M, Moin M, Arnaout R, Alshareef S, El-Baghdadi J, Genel F, Sherkat R, Kiykim A, Yücel E, Keles S, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: kendir demirkol y. J Exp Med. 2022 Oct 3;219(10):e20220094. doi: 10.1084/jem.20220094. Epub 2022 Sep 12. J Exp Med. 2022. PMID: 36094518 Free PMC article.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Catak MC, Akcam B, Bilgic Eltan S, Babayeva R, Karakus IS, Akgun G, Baser D, Bulutoglu A, Bayram F, Kasap N, Kiykim A, Hancioglu G, Kokcu Karadag SI, Kendir Demirkol Y, Ozen S, Cekic S, Ozcan D, Edeer Karaca N, Sasihuseyinoglu AS, Cansever M, Ozek Yucel E, Tamay Z, Altintas DU, Aydogmus C, Celmeli F, Cokugras H, Gulez N, Genel F, Metin A, Guner SN, Kutukculer N, Keles S, Reisli I, Kilic SS, Yildiran A, Karakoc-Aydiner E, Lo B, Ozen A, Baris S. Catak MC, et al. Among authors: kendir demirkol y. Allergy. 2022 Oct;77(10):3108-3123. doi: 10.1111/all.15331. Epub 2022 May 12. Allergy. 2022. PMID: 35491430
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
Rosain J, Kiykim A, Michev A, Kendir-Demirkol Y, Rinchai D, Peel JN, Li H, Ocak S, Ozdemir PG, Le Voyer T, Philippot Q, Khan T, Neehus AL, Migaud M, Soudée C, Boisson-Dupuis S, Marr N, Borghesi A, Casanova JL, Bustamante J. Rosain J, et al. Among authors: kendir demirkol y. J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5. J Clin Immunol. 2024. PMID: 38363432 Free PMC article.
Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.
Demir D, Kendir Demirkol Y, Gerenli N, Aktaş Karabay E. Demir D, et al. Among authors: kendir demirkol y. J Pediatr Genet. 2020 Sep 4;11(2):147-150. doi: 10.1055/s-0040-1716331. eCollection 2022 Jun. J Pediatr Genet. 2020. PMID: 35769968 Free PMC article.
27 results