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.
Clementi
Rita
R
Department of Biology and Medical Genetics, University of Pavia, Pavia, Italy.
Dagna
Lorenzo
L
Dianzani
Umberto
U
Dupré
Loïc
L
Dianzani
Irma
I
Ponzoni
Maurilio
M
Cometa
Angela
A
Chiocchetti
Annalisa
A
Sabbadini
Maria Grazia
MG
Rugarli
Claudio
C
Ciceri
Fabio
F
Maccario
Rita
R
Locatelli
Franco
F
Danesino
Cesare
C
Ferrarini
Marina
M
Bregni
Marco
M
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