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.
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From the Department of Biology and Medical Genetics, University of Pavia, Pavia (R.C., C.D.); the Department of Pediatric Hematology–Oncology (R.C., A. Cometa, R.M., F.L.), Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia; the Department of Oncology–Laboratory of Tumor Immunology (L. Dagna, M.F.), the Unit of Hematology–Bone Marrow Transplantation (F.C., M.B.), the Department of Pathology (M.P.), the Clinical Immunology and Rheumatology Unit (M.G.S.), and the Telethon Institute for Gene Therapy (L. Dupré), Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan; Vita-Salute San Raffaele University School of Medicine, Milan (L. Dagna, M.G.S., C.R.); and the Interdisciplinary Research Center of Autoimmune Diseases and Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara (U.D., I.D., A. Chiocchetti) — all in Italy.
Drs. Ferrarini and Bregni contributed equally to this article.
Address reprint requests to Dr. Bregni at the Unit of Hematology–Bone Marrow Transplantation, Istituto Scientifico H. San Raffaele, 20132 Milan, Italy, or at marco.bregni{at}hsr.it.
Related Letters:
Autoimmune Lymphoproliferative Syndrome and Perforin
Rieux-Laucat F., Le Deist F., De Saint Basile G., Clementi R., Ferrarini M., Bregni M.
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N Engl J Med 2005;
352:306-307, Jan 20, 2005.
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