Table 1.
Primary Immunodeficiencies Affecting the Th17 Cell Pathway Linked to Susceptibility to Oral Mucosal Infection.
Oral manifestation | Gene affected by mutation | Clinical Syndrome (If described) | Reference |
---|---|---|---|
Chronic Mucocutaneous Candidiasis (CMC) |
IL-17RA, IL-17RC IL-17F, ACT1 |
(Puel et al., 2011) (Boisson et al., 2013) (Ling et al., 2015) |
|
Loss-of -function STAT3 | Autosomal dominant hyper IgE syndrome (AD-HIES) | (Freeman & Holland, 2009) | |
Gain-of-function STAT1 | (Liu et al., 2011) | ||
AIRE | Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) | (Meloni et al., 2012) | |
DOCK8 | Autosomal recessive hyper IgE syndrome (AR-HIES) | (Zhang et al., 2009) | |
DECTIN-1 | (Ferwerda et al., 2009) | ||
CARD-9 | (Glocker et al., 2009) | ||
IRF8 | (Hambleton et al., 2011) | ||
STK4 | (Abdollahpour et al., 2012) | ||
CD45, IL7RA, RAG1, RAG2, ADA, AK2 JAK3, ARTEMIS |
Severe combined immunodeficiency (SCID) | (Buckley, 2004) |