Brief report:: Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma

被引：50
|
作者：
Clementi, R
Dagna, L
Dianzani, U
Dupré, L
Dianzani, I
Ponzoni, M
Cometa, A
Chiocchetti, A
Sabbadini, MG
Rugarli, C
Ciceri, F
Maccario, R
Locatelli, F
Danesino, C
Ferrarini, M
Bregni, M
机构：
[1] Univ Pavia, Dept Biol & Med Genet, I-27100 Pavia, Italy
[2] Policlin San Matteo, Ist Ricovero & Cura Carattere Sci, Dept Pediat Hematol Oncol, I-27100 Pavia, Italy
[3] Univ Milan, Osped San Raffaele, Ist Ricovero & Cura Carattere Sci, Dept Oncol,Lab Tumor Immunol, I-20127 Milan, Italy
[4] Univ Milan, Osped San Raffaele, Ist Ricovero & Cura Carattere Sci, Unit Hematol Bone Marrow Transplantat, I-20127 Milan, Italy
[5] Univ Milan, Osped San Raffaele, Ist Ricovero & Cura Carattere Sci, Dept Pathol, I-20127 Milan, Italy
[6] Univ Milan, Osped San Raffaele, Ist Ricovero & Cura Carattere Sci, Clin Immunol & Rheumatol Unit, I-20127 Milan, Italy
[7] Univ Milan, Osped San Raffaele, Ist Ricovero & Cura Carattere Sci, Telethon Inst Gene Therapy, I-20127 Milan, Italy
[8] Vita Salute San Raffaele Univ Sch Med, Milan, Italy
[9] A Avogadro Univ Eastern Piedmont, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy
[10] A Avogadro Univ Eastern Piedmont, Dept Med Sci, Novara, Italy
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2004年 / 351卷 / 14期
关键词：
D O I：
10.1056/NEJMoa041432
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1419 / 1424
页数：6
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