Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
A 27-year-old man with the autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma had heterozygous mutations in the Fas and perforin (Prf1) genes. The Fas mutation was inherited from his healthy father and was also carried by his healthy brother, whereas the Prf1 mutation was inherited from his healthy mother. The combined effect of the two mutant genes may have contributed to the development of the autoimmune lymphoproliferative syndrome and lymphoma in this patient.
Department of Biology and Medical Genetics, University of Pavia, Pavia, Italy.
Rita
R
Clementi
Lorenzo
L
Dagna
Umberto
U
Dianzani
Loïc
L
Dupré
Irma
I
Dianzani
Maurilio
M
Ponzoni
Angela
A
Cometa
Annalisa
A
Chiocchetti
Maria Grazia
MG
Sabbadini
Claudio
C
Rugarli
Fabio
F
Ciceri
Rita
R
Maccario
Franco
F
Locatelli
Cesare
C
Danesino
Marina
M
Ferrarini
Marco
M
Bregni
D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010375:Pedigree; D054353:Perforin; D017354:Point Mutation; D052899:Pore Forming Cytotoxic Proteins; D017422:Sequence Analysis, DNA; D019014:fas Receptor / Q000235:genetics*
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D019014:fas Receptor; D054353:Perforin