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Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: proietti m. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6. Nat Genet. 2022. PMID: 34987219 No abstract available.
Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.
Eskandarian Z, Fliegauf M, Bulashevska A, Proietti M, Hague R, Smulski CR, Schubert D, Warnatz K, Grimbacher B. Eskandarian Z, et al. Among authors: proietti m. Front Immunol. 2019 Jun 28;10:1490. doi: 10.3389/fimmu.2019.01490. eCollection 2019. Front Immunol. 2019. PMID: 31316524 Free PMC article.
Nonpermissive bone marrow environment impairs early B-cell development in common variable immunodeficiency.
Troilo A, Wehr C, Janowska I, Venhoff N, Thiel J, Rawluk J, Frede N, Staniek J, Lorenzetti R, Schleyer MT, Herget GW, Konstantinidis L, Erlacher M, Proietti M, Camacho-Ordonez N, Voll RE, Grimbacher B, Warnatz K, Salzer U, Rizzi M. Troilo A, et al. Among authors: proietti m. Blood. 2020 Apr 23;135(17):1452-1457. doi: 10.1182/blood.2019003855. Blood. 2020. PMID: 32157302 Free PMC article.
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: proietti m. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation.
Wehr C, Houet L, Unger S, Kindle G, Goldacker S, Grimbacher B, Caballero Garcia de Oteyza A, Marks R, Pfeifer D, Nieters A, Proietti M, Warnatz K, Schmitt-Graeff A. Wehr C, et al. Among authors: proietti m. J Clin Immunol. 2021 Aug;41(6):1250-1265. doi: 10.1007/s10875-021-01016-4. Epub 2021 Apr 19. J Clin Immunol. 2021. PMID: 33876323 Free PMC article.
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, Kobbe R, Warnatz K, Ehl S, Proietti M, Grimbacher B. Rojas-Restrepo J, et al. Among authors: proietti m. Front Immunol. 2021 Dec 17;12:786516. doi: 10.3389/fimmu.2021.786516. eCollection 2021. Front Immunol. 2021. PMID: 34975878 Free PMC article.
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.
Ramirez N, Posadas-Cantera S, Langer N, de Oteyza ACG, Proietti M, Keller B, Zhao F, Gernedl V, Pecoraro M, Eibel H, Warnatz K, Ballestar E, Geiger R, Bossen C, Grimbacher B. Ramirez N, et al. Among authors: proietti m. Front Immunol. 2022 Aug 16;13:938240. doi: 10.3389/fimmu.2022.938240. eCollection 2022. Front Immunol. 2022. PMID: 36072607 Free PMC article.
425 results