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Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367.
Blood Adv. 2022.
PMID: 34920454
Free PMC article.
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K.
Conde CD, et al. Among authors: petronczki oy.
J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.
J Clin Invest. 2019.
PMID: 31449058
Free PMC article.
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Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.
Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
Serwas NK, et al. Among authors: petronczki oy.
Nat Commun. 2019 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.
Nat Commun. 2019.
PMID: 31578334
Free PMC article.
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RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.
Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki ÖY, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, McClanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupré L, Sanal Ö, Jäger U, Sixt M, Tezcan I, Orange JS, Boztug K.
Salzer E, et al. Among authors: petronczki oy.
Nat Immunol. 2016 Dec;17(12):1352-1360. doi: 10.1038/ni.3575. Epub 2016 Oct 24.
Nat Immunol. 2016.
PMID: 27776107
Free PMC article.
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