Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

Stefano Vavassori; Jacob D Galson; Johannes Trück; Anke van den Berg; Rienk Y J Tamminga; Aude Magerus-Chatinet; Olivier Pellé; Ulrike Camenisch Gross; Ewerton Marques Maggio; Seraina Prader; Lennart Opitz; Ursina Nüesch; Andrea Mauracher; Benjamin Volkmer; Oliver Speer; Luzia Suda; Benno Röthlisberger; Dieter Robert Zimmermann; Rouven Müller; Arjan Diepstra; Lydia Visser; Eugenia Haralambieva; Bénédicte Neven; Frédéric Rieux-Laucat; Jana Pachlopnik Schmid

doi:10.1182/bloodadvances.2017006411

Lymphadenopathy driven by TCR-V_γ8V_δ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

Blood Adv. 2017 Jun 22;1(15):1101-1106. doi: 10.1182/bloodadvances.2017006411. eCollection 2017 Jun 27.

Authors

Stefano Vavassori¹, Jacob D Galson^{1

2}, Johannes Trück¹, Anke van den Berg³, Rienk Y J Tamminga⁴, Aude Magerus-Chatinet⁵, Olivier Pellé⁵, Ulrike Camenisch Gross⁶, Ewerton Marques Maggio⁶, Seraina Prader¹, Lennart Opitz^{1

7}, Ursina Nüesch¹, Andrea Mauracher¹, Benjamin Volkmer¹, Oliver Speer¹, Luzia Suda⁸, Benno Röthlisberger⁸, Dieter Robert Zimmermann⁶, Rouven Müller⁹, Arjan Diepstra³, Lydia Visser³, Eugenia Haralambieva⁵, Bénédicte Neven⁵, Frédéric Rieux-Laucat⁵, Jana Pachlopnik Schmid^{1

10}

Affiliations

¹ Pediatric Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
² Vaccine Group, University of Oxford, Oxford, United Kingdom.
³ Department of Pathology and Medical Biology and.
⁴ Paediatric Hematology and Oncology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
⁵ INSERM unité mixte de recherche 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris, France.
⁶ Department of Pathology, University Hospital Zurich, Zurich, Switzerland.
⁷ Functional Genomics Center Zurich, Swiss Federal Institute of Technology Zurich, University of Zurich, Zurich, Switzerland.
⁸ Medical Genetics, Institut für Labormedizin, Kantonsspital Aarau, Aarau, Switzerland.
⁹ Division of Hematology, University Hospital Zurich, Zurich, Switzerland; and.
¹⁰ Medical Faculty, University of Zurich, Zurich, Switzerland.

Abstract

FAS-dependent apoptosis in V_δ1 T cells makes the latter possible culprits for the lymphadenopathy observed in patients with FAS mutations.Rapamycin and methylprednisolone resistance should prompt clinicians to look for V_δ1 T cell proliferation in ALPS-FAS patients.