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

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.

journal_name

Haematologica

journal_title

Haematologica

authors

Campagnoli MF,Garbarini L,Quarello P,Garelli E,Carando A,Baravalle V,Doria A,Biava A,Chiocchetti A,Rosolen A,Dufour C,Dianzani U,Ramenghi U

keywords:

subject

Has Abstract

pub_date

2006-04-01 00:00:00

pages

538-41

issue

4

eissn

0390-6078

issn

1592-8721

pii

03906078_9093

journal_volume

91

pub_type

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