| HLA DQB1*06:02 |
Antigen presenting cells |
Encode MHC Class II proteins |
Mignot et al., 1997. |
99% of narcoleptic patients carry this allele |
| TCR alpha |
T cells |
Recognize antigens presented by APCs |
Hallmayer et al., 2009. |
An amino acid variant in the TCR alpha locus J24 segment confers an increased risk of developing narcolepsy |
| CTSH |
Antigen presenting cells |
Degradation of lysosomal proteins |
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| OX40L |
Antigen presenting cells |
Amplifies Th2 cell differentiation |
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| DNMT1 |
Lymphoblasts, CD4+ and CD8+ cells |
Regulates the addition of methyl groups to DNA to effect gene expression |
Winkelmann et al., 2012. |
Mutations in exon 21 of this gene cause autosomal dominant cerebellar ataxia, deafness and narcolepsy |
| P2RY11 |
Lymphoblasts, CD4+ and CD8+ cells |
Modulates leukocyte maturation, chemotaxis, and apoptosis |
Kornum et al., 2011. |
There is a reduced expression in cytotoxic lymphocytes NK cells of narcoleptic patients |
| TRIB2 |
Wide expression |
Induces apoptosis of cells mainly of the hematopoietic origin |
Toyoda et al., 2010; Kawashima et al., 2010. |
Anti-TRIB2 autoantibodies were associated with the onset of narcolepsy |
