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

Rita Clementi; Lorenzo Dagna; Umberto Dianzani; Loïc Dupré; Irma Dianzani; Maurilio Ponzoni; Angela Cometa; Annalisa Chiocchetti; Maria Grazia Sabbadini; Claudio Rugarli; Fabio Ciceri; Rita Maccario; Franco Locatelli; Cesare Danesino; Marina Ferrarini; Marco Bregni

doi:10.1056/NEJMoa041432

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

Rita Clementi
, Lorenzo Dagna
, Umberto Dianzani
, Loïc Dupré
, Irma Dianzani
, Maurilio Ponzoni
, Angela Cometa
, Annalisa Chiocchetti
, Maria Grazia Sabbadini
, Claudio Rugarli
, Fabio Ciceri
, Rita Maccario
, Franco Locatelli
, Cesare Danesino
, Marina Ferrarini
, Marco Bregni^*

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

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.

Lingua originale	Inglese
pagine (da-a)	1419-1424
Numero di pagine	4
Rivista	THE NEW ENGLAND JOURNAL OF MEDICINE
Volume	351
Numero di pubblicazione	14
DOI	https://doi.org/10.1056/NEJMoa041432
Stato di pubblicazione	Pubblicato - 2004

OSS delle Nazioni Unite

Questo processo contribuisce al raggiungimento dei seguenti obiettivi di sviluppo sostenibile

SDG 3 Salute e benessere

All Science Journal Classification (ASJC) codes

Medicina Generale

Keywords

N/A

Accesso al documento

10.1056/NEJMoa041432

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Clementi, R., Dagna, L., Dianzani, U., Dupré, L., Dianzani, I., Ponzoni, M., Cometa, A., Chiocchetti, A., Sabbadini, M. G., Rugarli, C., Ciceri, F., Maccario, R., Locatelli, F., Danesino, C., Ferrarini, M., & Bregni, M. (2004). Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. THE NEW ENGLAND JOURNAL OF MEDICINE, 351(14), 1419-1424. https://doi.org/10.1056/NEJMoa041432

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title = "Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma",

abstract = "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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author = "Rita Clementi and Lorenzo Dagna and Umberto Dianzani and Lo{\"i}c Dupr{\'e} and Irma Dianzani and Maurilio Ponzoni and Angela Cometa and Annalisa Chiocchetti and Sabbadini, \{Maria Grazia\} and Claudio Rugarli and Fabio Ciceri and Rita Maccario and Franco Locatelli and Cesare Danesino and Marina Ferrarini and Marco Bregni",

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doi = "10.1056/NEJMoa041432",

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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 2004, 'Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma', THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 351, n. 14, pagg. 1419-1424. https://doi.org/10.1056/NEJMoa041432

TY - JOUR

T1 - Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma

AU - Clementi, Rita

AU - Dagna, Lorenzo

AU - Dianzani, Umberto

AU - Dupré, Loïc

AU - Dianzani, Irma

AU - Ponzoni, Maurilio

AU - Cometa, Angela

AU - Chiocchetti, Annalisa

AU - Sabbadini, Maria Grazia

AU - Rugarli, Claudio

AU - Ciceri, Fabio

AU - Maccario, Rita

AU - Locatelli, Franco

AU - Danesino, Cesare

AU - Ferrarini, Marina

AU - Bregni, Marco

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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.

KW - N/A

UR - https://publicatt.unicatt.it/handle/10807/260370

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UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=4644229431&origin=inward

U2 - 10.1056/NEJMoa041432

DO - 10.1056/NEJMoa041432

M3 - Article

SN - 0028-4793

VL - 351

SP - 1419

EP - 1424

JO - THE NEW ENGLAND JOURNAL OF MEDICINE

JF - THE NEW ENGLAND JOURNAL OF MEDICINE

IS - 14

ER -

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

Abstract

OSS delle Nazioni Unite

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Keywords

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