Skip navigation
Skip navigation

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

Description

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]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
URI: http://hdl.handle.net/1885/98708
Source: Blood
DOI: 10.1182/blood-2015-03-631374

Download

File Description SizeFormat Image
01_Fuchs_Omenn_syndrome_associated_with_2015.pdf2.62 MBAdobe PDF    Request a copy


Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  19 May 2020/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator