Biblio

Author Title Type [ Year(Desc)]
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2015
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, et al. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. Hum Mol Genet. 2015.
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.
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.
Posovszky C, Sirin M, Jacobsen E, Lorenz M, Schwarz K, Schmidt-Choudhury A, Rothoeft T, Schuetz C, Hönig M, Debatin K-M, et al. Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency. Clin Immunol. 2019.
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.
Holzer U, Döring M, Eichholz T, Ebinger M, Queudeville M, Turkiewicz D, Schwarz K, Handgretinger R, Lang P, Toporski J. Matched versus Haploidentical Hematopoietic Stem Cell Transplantation as Treatment Options for Primary Immunodeficiencies in Children. Biol Blood Marrow Transplant. 2020.
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.
2023
Meedt E, Weber D, Bonifacius A, Eiz-Vesper B, Maecker-Kolhoff B, Delecluse S, Delecluse H-J, Lorenz M, Schwarz K, Meedt ST, et al. Chronic Active Epstein-Barr Virus Infection controlled by allogeneic stem cell transplantation and EBV-specific T-cells. Clin Infect Dis. 2023.
2024
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.