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. 2009 Apr;22(2):240–273. doi: 10.1128/CMR.00046-08

TABLE 2.

Genetic disorders in innate immunity: associations with human diseases

Gene producta Disease association Reference(s)
TLRs
    TLR2 Susceptibility to leprosy and tuberculosis 33, 167
    TLR2 Protection from Lyme disease; susceptibility to staphylococcal disease and tuberculosis 217, 278, 326
    TLR2 Increased severity of genital herpes 37
    TLR3 Susceptibility to HSV encephalitis 400
    TLR4 Susceptibility to infection with gram-negative bacteria, malaria, and RSV 4, 218, 255, 360
    TLR4 Susceptibility to meningococcal sepsis 337
    TLR4 Protection from Legionnaires' disease 116
    TLR5 Susceptibility to Legionnaires' disease 117
    TLR7 Protection from hepatic fibrosis in chronic HCV infection 325
    TLR9 Susceptibility to SLE 361
    TLR9 Rapid progression of HIV infection 36
    TLR9 Increased risk of low birth wt in malaria during pregnancy 256
Signaling proteins
    MyD88 Susceptibility to infection with pyogenic bacteria 376
    Mal Protection from invasive pneumococcal disease, malaria, and tuberculosis 185
    IRAK1 Increased severity of sepsis 20
    IRAK4 Susceptibility to infection with pyogenic bacteria 294
    NEMO EDA-ID; susceptibility to infection with pyogenic bacteria, mycobacteria, herpesviruses, fungi 78, 195, 282
    IκBα EDA-ID 62
    IRF5 Increased risk of SLE 105, 183
NLRs
    NOD2 Susceptibility to Crohn's disease 144, 277
    NOD2 Blau syndrome, early-onset sarcoidosis 166
    NOD2 Susceptibility to psoriatic arthritis 299
    NALP1 Susceptibility to vitiligo-associated multiple autoimmune diseases 160
    NALP3 Periodic fever syndromes 86
Miscellaneous
    CD14 Susceptibility to RSV bronchiolitis 147
    UNC93B Susceptibility to HSV encephalitis 52
a

In cases where the same PRR gene product is listed repeatedly, each entry represents a different mutation/SNP.