17
Table 5C. Examples of Diagnostic Assays for Defects
of Innate Immune System Based on Infection
Susceptibility (Complement Defects Not Included)
(cont'd)
Infection
susceptibility
Genes
associated
Recommended diagnostic assays other
than genetic testing
Chronic
mucocutaneous
candidiasis (CMC)
AIRE, IL17RA,
IL17RC, IL17F,
STAT3, DOCK8,
STAT1, CARD9
Enumeration of TH17 cells by flow
cytometry
Autoantibodies against IL-17A or IL17F for
acquired CMC
Mycobacterial
disease (MSMD)
IFNGR1,
IFNGR2,
IKBKG,
IL12RB1,
IL12B1,
IL12RB2,
IL23R, STAT1,
JAK1, IFNG,
GATA2
Targeted cytokine assays
Flow cytometry of IFNGR1 (CD119) and
IL12RB1 (CD212)
Autoantibodies against IFN-γ, for acquired
MSMD
