The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.
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.
Campagnoli
Maria Francesca
MF
Divisione di Ematologia, Dipartimento di Scienze Pediatriche, Università di Torino, Turin, Italy.
Garbarini
Letizia
L
Quarello
Paola
P
Garelli
Emanuela
E
Carando
Adriana
A
Baravalle
Valentina
V
Doria
Alessandra
A
Biava
Alessandra
A
Chiocchetti
Annalisa
A
Rosolen
Angelo
A
Dufour
Carlo
C
Dianzani
Umberto
U
Ramenghi
Ugo
U
D000293:Adolescent; D001327:Autoimmune Diseases / Q000209:etiology / Q000235:genetics*; D053455:Caspase 10; D020169:Caspases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000209:etiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D019014:fas Receptor / Q000235:genetics
D019014:fas Receptor; D053455:Caspase 10; D020169:Caspases; C506438:CASP10 protein, human