15
Table 5B. Defects of Phagocyte Numbers and Function
Neutrophil defect Genes associated Recommended laboratory testing
Congenital
neutropenia
ELANE, HAX1, WAS,
G6PC3, SLC37A4,
TAZ, VPS13B, JAGN1,
CSF3R, CEBPE,
SMARCD2, HYOU1,
SBDS, DNAJC21,
EFL1, USB1, SRP54,
CXCR2, WAS
Serial CBC with differential
Bone marrow aspirate
Leukocyte adhesion
defect I
ITGB2 Flow cytometry to assess CD18
Leukocyte adhesion
defect II
SLC35C1 Flow cytometry to evaluate sialyl
Lewis X (CD15s) expression on
leukocytes
Leukocyte adhesion
defect III
FERMT3 Platelet function
Leukocyte adhesion
defect IV
RAC2 Assessment of neutrophil
chemotaxis
Dihydrorhodamine oxidation assay
(DHR) with f MLP for oxidative
burst assessment
X-linked
(XL)-chronic
granulomatous disease
CYBB DHR test for neutrophil oxidative
burst
Autosomal recessive
(AR)-chronic
granulomatous
disease
CYBA, CYBC1, NCF1,
NCF2, and NCF4
DHR test for neutrophil oxidative
burst
Flow cytometry for individual
NAPDH oxidase complex proteins
Pulmonary alveolar
proteinosis
CSF2RA, GATA2 Analysis of anti-GM-CSF
autoantibodies
