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SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
J Clin Immunol. 2022 Aug;42(6):1171-1192. doi: 10.1007/s10875-022-01275-9. Epub 2022 May 3.
J Clin Immunol. 2022.
PMID: 35503492
Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Steininger J, Leiss-Piller A, Geier CB, Rossmanith R, Elfeky R, Bra D, Pichler H, Lawitschka A, Zubarovskaya N, Artacker G, Matthes-Leodolter S, Eibl MM, Wolf HM.
Steininger J, et al. Among authors: leiss piller a.
Front Immunol. 2021 Apr 20;12:644687. doi: 10.3389/fimmu.2021.644687. eCollection 2021.
Front Immunol. 2021.
PMID: 33959125
Free PMC article.
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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO 2nd, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, Förster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojić M, Kołtan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE.
Geier CB, et al. Among authors: leiss piller a.
J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10.
J Clin Immunol. 2022.
PMID: 35947323
Free PMC article.
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Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.
Geier CB, Sauerwein KMT, Leiss-Piller A, Zmek I, Fischer MB, Eibl MM, Wolf HM.
Geier CB, et al. Among authors: leiss piller a.
Front Immunol. 2018 Dec 18;9:2984. doi: 10.3389/fimmu.2018.02984. eCollection 2018.
Front Immunol. 2018.
PMID: 30619340
Free PMC article.
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Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Steininger J, Rossmanith R, Geier CB, Leiss-Piller A, Thonhauser L, Weiss S, Hainfellner JA, Freilinger M, Schmidt WM, Eibl MM, Wolf HM.
Steininger J, et al. Among authors: leiss piller a.
Front Immunol. 2021 Dec 20;12:747738. doi: 10.3389/fimmu.2021.747738. eCollection 2021.
Front Immunol. 2021.
PMID: 34987501
Free PMC article.
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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV.
Sharapova SO, et al. Among authors: leiss piller a.
Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020.
Front Immunol. 2020.
PMID: 32655540
Free PMC article.
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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L.
Weis D, et al. Among authors: leiss piller a.
J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882.
J Clin Invest. 2024.
PMID: 37943617
Free PMC article.
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