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Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Among authors: kasap n. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233
Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
Baris HE, Ogulur I, Akcam B, Kiykim A, Karagoz D, Saraymen B, Akgun G, Eltan SB, Aydemir S, Akidagi Z, Bentli E, Nain E, Kasap N, Baser D, Altintas DU, Camcioglu Y, Yesil G, Ozen A, Koker MY, Karakoc-Aydiner E, Baris S. Baris HE, et al. Among authors: kasap n. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3525-3534.e1. doi: 10.1016/j.jaip.2020.07.030. Epub 2020 Jul 28. J Allergy Clin Immunol Pract. 2020. PMID: 32736065
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells.
Sefer AP, Charbonnier LM, Kasap N, Akcam B, Demirkol YK, Eltan SB, Ozen A, Karakoc-Aydiner E, Baris S. Sefer AP, et al. Among authors: kasap n. J Clin Immunol. 2021 Jan;41(1):251-255. doi: 10.1007/s10875-020-00889-1. Epub 2020 Oct 10. J Clin Immunol. 2021. PMID: 33040278 No abstract available.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
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. Cagdas D, et al. Among authors: kasap n. J Clin Immunol. 2021 Aug;41(6):1272-1290. doi: 10.1007/s10875-021-01031-5. Epub 2021 Apr 30. J Clin Immunol. 2021. PMID: 33929673 Free PMC article.
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Kolukisa B, Baser D, Akcam B, Danielson J, Bilgic Eltan S, Haliloglu Y, Sefer AP, Babayeva R, Akgun G, Charbonnier LM, Schmitz-Abe K, Kendir Demirkol Y, Zhang Y, Gonzaga-Jauregui C, Jimenez Heredia R, Kasap N, Kiykim A, Ozek Yucel E, Gok V, Unal E, Pac Kisaarslan A, Nepesov S, Baysoy G, Onal Z, Yesil G, Celkan TT, Cokugras H, Camcioglu Y, Eken A, Boztug K, Lo B, Karakoc-Aydiner E, Su HC, Ozen A, Chatila TA, Baris S. Kolukisa B, et al. Among authors: kasap n. Allergy. 2022 Mar;77(3):1004-1019. doi: 10.1111/all.15010. Epub 2021 Jul 30. Allergy. 2022. PMID: 34287962 Free PMC article.
32 results