Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Medientyp: E-Artikel
Titel: Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency
Beteiligte: Fuchs, Sebastian; Rensing-Ehl, Anne; Pannicke, Ulrich; Lorenz, Myriam R.; Fisch, Paul; Jeelall, Yogesh; Rohr, Jan; Speckmann, Carsten; Vraetz, Thomas; Farmand, Susan; Schmitt-Graeff, Annette; Krüger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus; Ehl, Stephan
Erschienen: American Society of Hematology, 2015
Erschienen in: Blood
Sprache: Englisch
DOI: 10.1182/blood-2015-03-631374
ISSN: 1528-0020; 0006-4971
Schlagwörter: Cell Biology ; Hematology ; Immunology ; Biochemistry
Entstehung:
Anmerkungen:
Beschreibung: <jats:title>Key Points</jats:title> <jats:p>Functional reversion of a germline CARD11 mutation in T cells is associated with the development of Omenn syndrome. Defective thymic T-cell development and peripheral lymphopenia are no prerequisite for the development of Omenn syndrome.</jats:p>
Zugangsstatus: Freier Zugang

Nur in Feld suchen: