Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency
Fuchs, Sebastian; Rensing-Ehl, A.; Pannicke, Ulrich; Lorenz, Myriam R.; Fisch, Paul; Jeelall, Yogeshraj; Rohr, Jan; Speckmann, Carsten; Vraetz, T; Framand, Susan; Schmitt-Graeff, Annette; Kruger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus; Ehl, Stephan
Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopeniawith homeostatic proliferation, and lack of regulatory T cells are considered key factors inOS pathogenesis.Wereport 2 siblings presentingwith cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all...[Show more]
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