Table 1. Clinical manifestations of... | Rockefeller University Press

Table 1.

Clinical manifestations of human inborn errors of the phagocyte respiratory burst

	Gene (protein)	Inheritance	Defect	Clinical manifestations
	Gene (protein)	Inheritance	Defect	Infection	Autoinflammation	Autoimmunity
Inborn errors of the phagocytic NADPH oxidase complex	CYBA (p22^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	CYBA (p22^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	+	+/−
	CYBB (gp91^phox)	XR	Complete	Bacteria, mycobacteria, fungi, and parasites	++	+
			Partial	Bacteria and fungi	+	+
			Partial^{^a}	Mycobacteria	Not reported	Not reported
	NCF1 (p47^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	NCF1 (p47^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	++	+/−
	NCF2 (p67^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	NCF2 (p67^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	++	+/−
Regulators of NADPH assembly, activation, and stability	NCF4 (p40^phox)	AR	Complete	Bacteria and mycobacteria	+++	+
	PRKCD (PKCδ)	AR	Complete	Bacteria, mycobacteria, fungi, and viruses	++	+++
	CYBC1 (EROS)	AR	Complete	Bacteria, mycobacteria, fungi, and viruses	++	+
	RAC2 (RAC2)	AD (DN)	Partial	Bacteria	Not reported	Not reported
	RAC2 (RAC2)	AD (GOF)	Partial	Bacteria and viruses	Not reported	Not reported
	DOCK2(DOCK2)	AR	Complete	Bacteria and viruses	Not reported	Not reported
Transcriptional and posttranslational regulators of NADPH oxidase	TNF (TNF)	AR	Complete	M. tuberculosis	Not reported	Not reported
	IKBKG (NEMO)	XR	Partial	Bacteria, mycobacteria, fungi, and parasites	+	Not reported
	IRAK4 (IRAK-4)	AR	Complete	Bacteria	+	Not reported
	MYD88 (MyD88)	AR	Complete	Bacteria	+	Not reported
	NFKBIA (IκBα)	AD (GOF)	Complete	Bacteria, mycobacteria, fungi, and parasites	Not reported	Not reported
	IFNGR1 (IFN-γR1)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	IFNGR2 (IFN-γR2)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	IRF1 (IRF1)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	STAT1 (STAT)	AR	Complete	Mycobacteria and viruses	Not reported	Not reported

	Gene (protein)	Inheritance	Defect	Clinical manifestations
	Gene (protein)	Inheritance	Defect	Infection	Autoinflammation	Autoimmunity
Inborn errors of the phagocytic NADPH oxidase complex	CYBA (p22^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	CYBA (p22^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	+	+/−
	CYBB (gp91^phox)	XR	Complete	Bacteria, mycobacteria, fungi, and parasites	++	+
			Partial	Bacteria and fungi	+	+
			Partial^a	Mycobacteria	Not reported	Not reported
	NCF1 (p47^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	NCF1 (p47^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	++	+/−
	NCF2 (p67^phox)	AR	Complete	Bacteria, mycobacteria, and fungi	++	+
	NCF2 (p67^phox)	AR	Partial	Bacteria, mycobacteria, and fungi	++	+/−
Regulators of NADPH assembly, activation, and stability	NCF4 (p40^phox)	AR	Complete	Bacteria and mycobacteria	+++	+
	PRKCD (PKCδ)	AR	Complete	Bacteria, mycobacteria, fungi, and viruses	++	+++
	CYBC1 (EROS)	AR	Complete	Bacteria, mycobacteria, fungi, and viruses	++	+
	RAC2 (RAC2)	AD (DN)	Partial	Bacteria	Not reported	Not reported
	RAC2 (RAC2)	AD (GOF)	Partial	Bacteria and viruses	Not reported	Not reported
	DOCK2(DOCK2)	AR	Complete	Bacteria and viruses	Not reported	Not reported
Transcriptional and posttranslational regulators of NADPH oxidase	TNF (TNF)	AR	Complete	M. tuberculosis	Not reported	Not reported
	IKBKG (NEMO)	XR	Partial	Bacteria, mycobacteria, fungi, and parasites	+	Not reported
	IRAK4 (IRAK-4)	AR	Complete	Bacteria	+	Not reported
	MYD88 (MyD88)	AR	Complete	Bacteria	+	Not reported
	NFKBIA (IκBα)	AD (GOF)	Complete	Bacteria, mycobacteria, fungi, and parasites	Not reported	Not reported
	IFNGR1 (IFN-γR1)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	IFNGR2 (IFN-γR2)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	IRF1 (IRF1)	AR	Complete	Mycobacteria and intracellular microbes	Not reported	Not reported
	STAT1 (STAT)	AR	Complete	Mycobacteria and viruses	Not reported	Not reported

AD, autosomal dominant; AR, autosomal recessive; DN, dominant negative; GOF, gain-of-function; XR, X-linked recessive.

Germline variants conferring MSMD.

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