Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Author:

Stepensky Polina1,Rensing-Ehl Anne2,Gather Ruth23,Revel-Vilk Shoshana1,Fischer Ute4,Nabhani Schafiq4,Beier Fabian5,Brümmendorf Tim H.5,Fuchs Sebastian23,Zenke Simon2,Firat Elke6,Pessach Vered Molho7,Borkhardt Arndt4,Rakhmanov Mirzokhid2,Keller Bärbel2,Warnatz Klaus2,Eibel Hermann2,Niedermann Gabriele6,Elpeleg Orly8,Ehl Stephan29

Affiliation:

1. Pediatric Hemato-Oncology and Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;

2. Center for Chronic Immunodeficiency, University Medical Center Freiburg and

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

4. Department of Pediatric Oncology, Hematology, and Clinical Immunology, University Children’s Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany;

5. Department of Hematology, Oncology, and Stem Cell Transplantation, Rheinisch Westfälische Technische Hochschule Aachen University Medical School, Aachen, Germany;

6. Department of Radiation Oncology, University Hospital Freiburg, Freiburg, Germany;

7. Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;

8. Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; and

9. Center for Paediatrics and Adolescent Medicine, University Medical Center, University of Freiburg, Germany

Abstract

Key Points Deficiency of TPP2 is associated with Evans syndrome and viral infection susceptibility. TPP2 deficiency links premature immunosenescence of T and B cells with severe autoimmunity.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference43 articles.

1. Evans syndrome in childhood: pathophysiology, clinical course, and treatment.;Wang;Am J Pediatr Hematol Oncol,1988

2. Auto-immune lymphoproliferative disorder and other secondary immune thrombocytopenias in childhood.;Price;Pediatr Blood Cancer,2013

3. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.;Al-Herz;Front Immunol,2014

4. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.;Rensing-Ehl;Haematologica,2013

5. The janus head of T cell aging - autoimmunity and immunodeficiency.;Goronzy;Front Immunol,2013

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