Biblio

Author Title Type [ Year(Asc)]
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2024
Baumgartner F, Bamopoulos SA, Faletti L, Hsiao H-J, Holz M, Gonzalez-Menendez I, Boldo L, Horne A, Gosavi S, Özerdem C, et al. Activation of gp130 signaling in T cells drives T17-mediated multi-organ autoimmunity. Sci Signal. 2024;17(824):eadc9662.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari MElena, Ritterbusch H, Armstrong M, Cutcutache I, et al. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024;11(2):e114-e126.
Kögl T, Chang H-F, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, et al. Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect. J Exp Med. 2024;221(7).
2023
Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MAe, et al. The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. 2023.
Wolf C, Fischer H, Kühl J-S, Koss S, Jamra RAbou, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, et al. Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. J Allergy Clin Immunol. 2023.
Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield MPhDMarké, Booth C, Buddingh EP, et al. JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study. J Allergy Clin Immunol. 2023.
Böhm S, Wustrau K, Schmid JPachlopnik, Prader S, Ahlman M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, et al. Survival in primary hemophagocytic lymphohistiocytosis 2016-2021: etoposide is better than its reputation. Blood. 2023.
2022
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, et al. Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
2021
Küry P, Staniek J, Wegehaupt O, Janowska I, Eckenweiler M, Korinthenberg R, Japaridze N, Pendziwiat M, Helbig I, Verhoeyen E, et al. Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. J Allergy Clin Immunol. 2021.
Dimitrova D, Nademi Z, Maccari MElena, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, et al. International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
Vavassori S, Chou J, Faletti LEva, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, et al. Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. J Allergy Clin Immunol. 2021.
Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SLena, Panning M, Huzly D, Agaimy A, Bryceson YT, et al. Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity. J Allergy Clin Immunol. 2021.
2020
Küry P, Führer M, Fuchs S, Lorenz MR, Giorgetti OBruno, Bakhtiar S, Frei AP, Fisch P, Boehm T, Schwarz K, et al. Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development. EBioMedicine. 2020;59:102961.
Felber M, Steward CG, Kentouche K, Fasth A, Wynn RF, Zeilhofer U, Haunerdinger V, Volkmer B, Prader S, Gruhn B, et al. Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis. Blood Adv. 2020;4(9):1998-2010.
2019
Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari MElena, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, et al. Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. Clin Immunol. 2019:108316.
von Spee-Mayer C, Koemm V, Wehr C, Goldacker S, Kindle G, Bulashevska A, Proietti M, Grimbacher B, Ehl S, Warnatz K. Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency. Clin Immunol. 2019.
2016
Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, et al. Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol. 2016.