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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: wolf hm. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
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: wolf hm. Front Immunol. 2021 Dec 20;12:747738. doi: 10.3389/fimmu.2021.747738. eCollection 2021. Front Immunol. 2021. PMID: 34987501 Free PMC article.
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: wolf hm. Front Immunol. 2021 Apr 20;12:644687. doi: 10.3389/fimmu.2021.644687. eCollection 2021. Front Immunol. 2021. PMID: 33959125 Free PMC article.
95 results