Table 2.

DHR results for neutrophils with inborn errors of immunity affecting NADPH oxidase activity

​Gene (Protein)InheritanceDefectDHR assay
PMAE. coli/LPSfMLF
Inborn errors of the phagocytic NADPH oxidase complex CYBA (p22phox) AR Complete Abolished Abolished Abolished 
Partial Impaired Abolished Abolished 
CYBB (gp91phox) XR Complete Abolished Abolished Abolished 
Partial Impaired Abolished Abolished 
Partiala Normal Normal Normal 
NCF1 (p47phox) AR Complete Abolished Abolished Abolished 
Partial Impaired Abolished Abolished 
NCF2 (p67phox) AR Complete Abolished Abolished Abolished 
Partial Impaired Abolished Abolished 
Regulators of NADPH assembly, activation, and stability NCF4 (p40phox) AR Complete Normal to impaired Abolished Abolished 
PRKCD (PKCδ) AR Complete Impaired Impaired Not tested 
CYBC1 (EROS) AR Complete Impaired Impaired Not tested 
RAC2 (RAC2) AD (DN) Partial Normal Not tested Impaired 
AD (GOF) Partial Normal Not tested Increased 
DOCK2 (DOCK2) AR Complete Normal Not tested Not tested 
Transcriptional and posttranslational regulators of NADPH oxidase TNF (TNF) AR Complete Normal Normal Not tested 
IKBKG (NEMO) XR Partial Normal Impaired Impaired 
IRAK4 (IRAK-4) AR Complete Normal Impaired Impaired 
MYD88 (MyD88) AR Complete Normal Impaired Not tested 
NFKBIA (IκBα) AD (GOF) Complete Not tested Not tested Not tested 
IFNGR1 (IFN-γR1) AR Complete Normal Not tested Not tested 
IFNGR2 (IFN-γR2) AR Complete Normal Not tested Not tested 
IRF1 (IRF1) AR Complete Normal Not tested Not tested 
STAT1 (STAT1) AR Complete Normal Not tested Not tested 

AD, autosomal dominant; AR, autosomal recessive; DN, dominant negative; fMLF, N-formylmethionine-leucyl-phenylalanine; GOF, gain-of-function; XR, X-linked recessive.

a

Germline variants affecting ROS production specifically in macrophages.

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