14
Diagnosis
Table 5A. Examples of Specific Laboratory Testing for CIDs
With or Without Syndromic Features
IEI Associated genes Available clinical testing
Hyper IgM syndrome CD40L, CD40, UNG,
IKBKG, NFKBIA,
ATM, NBS1, PMS2,
MSH6, PIK3CD,
PIK3RI
CD40L surface expression and
function
CD40 surface expression
B-cell subset phenotyping
Major histocompatibility
complex (MHC) class I
deficiency
TAP1, TAP2, TAPBP,
B2M
MHC class I expression on
multiple immune cell types,
increased CD4:CD8 ratio
MHC class II deficiency RFXANK, RFX5,
RFXAP, CIITA
MHC class II expression on B
cells and monocytes, inverted
CD4:CD8 ratio
Wiskott-Aldrich
Syndrome
WAS WASP expression in
lymphocytes
DNA repair defects ATM, NBS1, BLM,
DNMT3B, ZBTB24,
PMS2, POLE1,
POLE2, LIG4
Serum AFP levels (>6 mo of age)
Flow cytometry analysis of DNA
repair
Immunodeficiency,
centromeric instability,
and facial anomalies (ICF)
syndrome
DNMT3B, ZBTB24,
CDCA7, HELLS
Cytogenetic analysis for
evaluation of centromeric
instability
ymic insufficiency with
congenital/syndromic
features
Chr22q11.2 deletion,
TBX1, TBX2, CHD7,
FOXN1, PAX1
TREC levels or recent thymic
emigrants by flow cytometry
11q23del, 10p13–p14
deletion
Chromosomal analysis (single
nucleotide polymorphism
[SNP] array)
Hyperimmunoglobulin E
syndrome (HIES)
STAT3, DOCK8,
PGM3, CARD11,
IL6R, IL6ST, ERBIN,
and ZNF431
Serum IgE, eosinophil count
T
H
17 cell quantification
DOCK8 expression
Cartilage hair hyperplasia RMRP Evaluation of compartment-
specific telomere length
