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. Author manuscript; available in PMC: 2018 Oct 1.
Published in final edited form as: Oral Dis. 2016 Dec 27;23(7):854–865. doi: 10.1111/odi.12598

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)