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Cerutti, Elisa and Campagnoli, Maria F and Ferretti, Massimo and Garelli, Emanuela and Crescenzio, Nicoletta and Rosolen, Angelo and Chiocchetti, Annalisa and Lenardo, Michael J and Ramenghi, Ugo and Dianzani, Umberto (2007) Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. [Online journal papers]

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Per gentile concessione di: http://www.biomedcentral.com/1471-2172/8/28

Abstract (english)


Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder characterized by defective function of Fas, autoimmune manifestations that predominantly involve blood cells, polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphoadenomegaly and/or splenomegaly, and expansion of TCR??+ CD4/CD8 double-negative (DN) T cells in the peripheral blood. Most frequently, it is due to Fas gene mutations, causing ALPS type Ia (ALPS-Ia). However, other mutations, namely of the FasL gene (ALPS-Ib) and the caspase-10 gene (ALPS-II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS-IV.


This work reports two patients that are combined heterozygous for single nucleotide substitutions in the Fas and caspase-10 genes. The first patient carried a splice site defect suppressing allele expression in the Fas gene and the P501L substitution in caspase-10. The second had a mutation causing a premature stop codon (Q47X) in the Fas gene and the Y446C substitution in caspase-10. Fas expression was reduced and caspase-10 activity was decreased in both patients. In both patients, the mutations were inherited from distinct healthy parents.


These data strongly suggest that co-transmission of these mutation was responsible for ALPS.

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EPrint type:Online journal papers
Anno di Pubblicazione:2007
Key Words:mutations, autoimmune, co-transmission
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/06 Oncologia medica
Struttura di riferimento:Dipartimenti > pre 2012 - Dipartimento di Pediatria
Codice ID:1241
Depositato il:09 Dec 2008
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