Probable monogenic autoimmune syndromes

Human autoimmune syndromes in which one gene seems to be responsible for the development of the disease have been rarely described so far (Bennett et al., 1995 Fisher et al., 1995 Rieux-Laucat et al., 1995 Drappa et al., 1996 Vogel et al., 2002). 

Mutations in the FOXP3 gene Impaired development and functional activity of regulatory CD4+CD25+ T cells Immunodysregulation, poly-endocrinopathy, enteropathy, X-linked syndrome (IPEX) 

Mutations in the FAS gene Impaired selftolerance by preventing the elimination of activated peripheral T cells Autoimmune lymphoprolifera-tive syndrome (ALPS) type la 

Probably mutations hitting the FAS signalling pathway downstream from FAS ALPS-III, Dianzani autoimmune lymphoproliferative disease (DALD) 

Although in most cases the described syndromes are inherited, it cannot be excluded that environmental as well as additional genetic factors may interact, which may explain the wide spectrum of disease signs and symptoms, the possibility of manifestations in adulthood, and the healthy state of parents carrying mutations (Rieux-Laucat et al., 1999 Deutsch et al., 2004). In this sense, these syndromes are not truly monogenic. The development of autoimmune lymphoproliferative syndromes seems to require accumulations of several genetic defects involved in apoptosis (Ramenghi et al., 2000). 

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