The broad spectrum of autoimmune lymphoproliferative disease: Molecular bases, clinical features and long-term follow-up in 31 patients

Maria Francesca Campagnoli, Letizia Garbarini, Paola Quarello, Emanuela Garelli, Adriana Carando, Valentina Baravalle, Alessandra Doria, Alessandra Biava, Annalisa Chiocchetti, Angelo Rosolen, Carlo Dufour, Umberto Dianzani, Ugo Ramenghi

Research output: Contribution to journalArticle

Abstract

Autoimmune lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome (ALPS) and Dianzani autoimmune lymphoproliferative disease (DALD), are inherited defects of the Fas apoptotic pathway characterized by lymphoid accumulation and autoimmune manifestations. We report the molecular, clinical, immunologic features and the long-term progress of 31 patients. Four carried Fas gene mutations and one also displayed a caspase 10 polymorphism that probably contributed to the phenotype. Seven patients developed antibody deficiency and their clinical pictures overlapped those of subjects with common variable immunodeficiency (CVID). We postulate the existence of a disorder that involves the Fas pathway and displays the characteristics of both autoimmune lymphoproliferative disease and CVID.

Original languageEnglish
Pages (from-to)538-541
Number of pages4
JournalHaematologica
Volume91
Issue number4
Publication statusPublished - Apr 2006

Keywords

  • Apoptosis
  • Autoimmune lymphoproliferative disease
  • Caspase 10
  • Common variable immunodeficiency
  • Fas

ASJC Scopus subject areas

  • Hematology

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    Campagnoli, M. F., Garbarini, L., Quarello, P., Garelli, E., Carando, A., Baravalle, V., Doria, A., Biava, A., Chiocchetti, A., Rosolen, A., Dufour, C., Dianzani, U., & Ramenghi, U. (2006). The broad spectrum of autoimmune lymphoproliferative disease: Molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica, 91(4), 538-541.