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Page 1
Rheumatological manifestations in inborn errors of immunity.
Köstel Bal S, Pazmandi J, Boztug K, Özen S. Köstel Bal S, et al. Among authors: boztug k. Pediatr Res. 2020 Jan;87(2):293-299. doi: 10.1038/s41390-019-0600-8. Epub 2019 Oct 3. Pediatr Res. 2020. PMID: 31581173 Review.
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, Kuloglu Z, Yavuz G, Dalgic B, Siklar Z, Kansu A, Ensari A, Boztug K, Dogu F, Ikinciogullari A. Kostel Bal S, et al. Among authors: boztug k. J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27. J Clin Immunol. 2017. PMID: 28956255 Free PMC article.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: boztug k. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED. Spencer S, et al. Among authors: boztug k. J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24. J Exp Med. 2019. PMID: 31235509 Free PMC article.
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.
Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID). Gasteiger LM, et al. Among authors: boztug k. J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019. J Allergy Clin Immunol Pract. 2020. PMID: 32389282 Free PMC article. No abstract available.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Among authors: boztug k. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.
Thian M, Hoeger B, Kamnev A, Poyer F, Köstel Bal S, Caldera M, Jiménez-Heredia R, Huemer J, Pickl WF, Groß M, Ehl S, Lucas CL, Menche J, Hutter C, Attarbaschi A, Dupré L, Boztug K. Thian M, et al. Among authors: boztug k. Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399. Haematologica. 2020. PMID: 33054089 Free PMC article. No abstract available.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Kalinichenko A, Perinetti Casoni G, Dupré L, Trotta L, Huemer J, Galgano D, German Y, Haladik B, Pazmandi J, Thian M, Yüce Petronczki Ö, Chiang SC, Taskinen M, Hekkala A, Kauppila S, Lindgren O, Tapiainen T, Kraakman MJ, Vettenranta K, Lomakin AJ, Saarela J, Seppänen MRJ, Bryceson YT, Boztug K. Kalinichenko A, et al. Among authors: boztug k. Blood. 2021 Apr 15;137(15):2033-2045. doi: 10.1182/blood.2020008738. Blood. 2021. PMID: 33513601 Free PMC article.
189 results