Abstract:
BACKGROUND: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 TCRalphabeta+ 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. RESULTS: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. CONCLUSION:These data strongly suggest that co-transmission of these mutation was responsible for ALPS.
journal_name
BMC Immunoljournal_title
BMC immunologyauthors
Cerutti E,Campagnoli MF,Ferretti M,Garelli E,Crescenzio N,Rosolen A,Chiocchetti A,Lenardo MJ,Ramenghi U,Dianzani Udoi
10.1186/1471-2172-8-28subject
Has Abstractpub_date
2007-11-13 00:00:00pages
28issn
1471-2172pii
1471-2172-8-28journal_volume
8pub_type
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