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

Author:

Fuchs Sebastian12,Rensing-Ehl Anne1,Pannicke Ulrich3,Lorenz Myriam R.3,Fisch Paul4,Jeelall Yogesh5,Rohr Jan16,Speckmann Carsten16,Vraetz Thomas6,Farmand Susan7,Schmitt-Graeff Annette4,Krüger Marcus6,Strahm Brigitte6,Henneke Philipp16,Enders Anselm5,Horikawa Keisuke5,Goodnow Christopher5,Schwarz Klaus38,Ehl Stephan16

Affiliation:

1. Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, Freiburg, Germany;

2. Faculty of Biology, University of Freiburg, Freiburg, Germany;

3. Institute for Transfusion Medicine, University of Ulm, Ulm, Germany;

4. Institute of Pathology, University Medical Center Freiburg, Freiburg, Germany;

5. Department of Immunology, John Curtin School of Medical Research, The Australian National University, Canberra, Australia;

6. Center of Pediatric and Adolescent Medicine, University Medical Center and University of Freiburg, Freiburg, Germany;

7. Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden; and

8. Institute of Clinical Transfusion Medicine and Immungenetics Ulm, German Red Cross Blood Service Baden Württemberg–Hessen, Ulm, Germany

Abstract

Key Points 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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