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Page 1
Congenital disorders of glycosylation with defective fucosylation.
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger RG, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer KM, Santer R, Herget T, Rennings A, Lefeber DJ, Mayr JA, Thiel C, Wortmann SB. Hüllen A, et al. Among authors: kotlarz d. J Inherit Metab Dis. 2021 Nov;44(6):1441-1452. doi: 10.1002/jimd.12426. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34389986
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
Aschenbrenner D, Ye Z, Zhou Y, Hu W, Brooks I, Williams I, Capitani M, Gartner L, Kotlarz D, Snapper SB, Klein C, Muise AM, Marsden BD, Huang Y, Uhlig HH. Aschenbrenner D, et al. Among authors: kotlarz d. J Clin Immunol. 2023 Feb;43(2):495-511. doi: 10.1007/s10875-022-01366-7. Epub 2022 Nov 12. J Clin Immunol. 2023. PMID: 36370291 Free PMC article.
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R. Nekooie-Marnany N, et al. Among authors: kotlarz d. J Clin Immunol. 2018 Oct;38(7):787-793. doi: 10.1007/s10875-018-0548-1. Epub 2018 Sep 25. J Clin Immunol. 2018. PMID: 30255293 Free PMC article.
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease.
Khoshnevisan R, Nekooei-Marnany N, Klein C, Kotlarz D, Behnam M, Ostadi V, Yaran M, Rezaei A, Sherkat R. Khoshnevisan R, et al. Among authors: kotlarz d. J Clin Tuberc Other Mycobact Dis. 2019 Sep 20;17:100123. doi: 10.1016/j.jctube.2019.100123. eCollection 2019 Dec. J Clin Tuberc Other Mycobact Dis. 2019. PMID: 31788565 Free PMC article.
NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency.
Khoshnevisan R, Anderson M, Babcock S, Anderson S, Illig D, Marquardt B, Sherkat R, Schröder K, Moll F, Hollizeck S, Rohlfs M, Walz C, Adibi P, Rezaei A, Andalib A, Koletzko S, Muise AM, Snapper SB, Klein C, Thiagarajah JR, Kotlarz D. Khoshnevisan R, et al. Among authors: kotlarz d. Inflamm Bowel Dis. 2020 Jul 17;26(8):1166-1176. doi: 10.1093/ibd/izaa017. Inflamm Bowel Dis. 2020. PMID: 32064493 Free PMC article.
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D. Murugan D, et al. Among authors: kotlarz d. J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12. J Clin Immunol. 2014. PMID: 24519095
Inherited biallelic CSF3R mutations in severe congenital neutropenia.
Triot A, Järvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Díaz JL, Racek T, Puchałka J, Gertz EM, Schäffer AA, Kotlarz D, Pfeifer D, Díaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sánchez de Toledo Codina J, Yagüe J, Touw IP, Unal E, Klein C. Triot A, et al. Among authors: kotlarz d. Blood. 2014 Jun 12;123(24):3811-7. doi: 10.1182/blood-2013-11-535419. Epub 2014 Apr 21. Blood. 2014. PMID: 24753537 Free PMC article.
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Glocker EO, et al. Among authors: kotlarz d. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. N Engl J Med. 2009. PMID: 19890111 Free PMC article.
81 results