16
Diagnosis
Table 5C. Examples of Diagnostic Assays for Defects
of Innate Immune System Based on Infection
Susceptibility (Complement Defects Not Included)
Infection
susceptibility
Genes
associated
Recommended diagnostic assays other
than genetic testing
Herpes simplex
virus (HSV)
encephalitis
TLR3,
UNC93B1,
STAT1, IKBKG,
IFNAR1,
DOCK8
MSMD testing for IFNAR1, IFNAR2, or
STAT1 deficiency
Phenotyping and functional assessments of
NK cells
TLR assay
Flow cytometric evaluation of interferon
(IFN)-γR (CD119) surface expression
Flow cytometry for DOCK8 protein expression
HPV Alpha-HPV Phenotyping and functional assessments of
NK cells
Alpha-HPV
(mucocutaneous
warts and HPV-
related cancers)
Alpha-HPV Phenotyping and functional assessments of
NK cells
CXCR4,
DOCK8, GATA2
Beta-HPV
Beta-HPV
(epidermodysplasia
verruciformis EV)
TMC6 (EVER1)
TMC8 (EVER2)
STK4, RHOH,
MST1, CORO1A
Severe viral
infections
IKBKG, TLR3,
GATA2, STAT1,
TYK2, IFNAR1,
IRF8, IRF7, IRF9,
MDA5, ZNFX1
Phenotyping and functional assessments of
NK cells
Targeted cytokine assays
Auto antibodies to type 1 IFNs
Disseminated
vaccine-strain
measles and/or
yellow fever
IFNAR1,
IFNAR2, TYK2,
STAT1, STAT2,
IRF9, IKBKG
Phenotyping and functional assessments of
NK cells
Targeted cytokine assays
Recurrent invasive
pyogenic bacterial
infection
IRAK4, MYD88,
IKBKG, NFKBIA
TRL-4 response to LPS
Hypo/asplenia
(for encapsulated
bacteria)
Peripheral blood erythrocytes for pitted red
cell count and/or IgM memory B-cell count
for hyposplenism
Blood smear for Howell-Jolly bodies
Abdominal imaging for asplenia.
Scintigraphy with
99m
Technetium labeled
heat-damaged erythrocytes
