Table 2.

Rare genetic causes of chronic granulomatous disease (CGD) or related disorders: non-NADPH oxidase causes.

Gene symbol	CYBC1	RAC2	G6PD	MPO	GSS
NCBI gene ID	79415	5880	2539	4353	2937
Gene name	Cytochrome b558 chaperone 1	Rac family small GTPase 2	Glucose-6-phosphate dehydrogenase	Myeloperoxidase	Glutathione synthetase
Gene location	17q25.3	22q13.1	Xq28	17q22	20q11.22
Exon count	8	8	14	12	15
Protein	CYBC1/Eros	Rac2-GTPase	G6PD	MPO	GSS
Protein location	Endoplasmic reticulum	Cytosol	Cytosol	Granule lumen	Cytosol, nucleus, mitochondria
Frequency	Rare	Rare	Severe deficiency is rare	Common but unlikely to cause CGD-like features	Rare
Inheritance	AR	AD	XR	AR	AR
Clinical severity	Few cases described	Few cases described	Spectrum from mild to severe	Asymptomatic or susceptible to Candida	Spectrum from mild to severe
Mutations	Nonsense Missense Missplicing	Nonsense Missense	Deletion Missense	Nonsense Missense Missplicing Deletions	Indels Nonsense Missense Missplicing
Notes	Also regulates expression of proteins other than gp91phox-p22phox, e.g., P2X7	Also associated with abnormalities of neutrophil chemotaxis and lymphocyte function	Mild cases: relatively common but lack CGD-like features Severe cases: generally mild CGD features	Rarely solely responsible for immunodeficiency	Mild cases: haemolytic anaemia only Moderate: metabolic acidosis Severe: progressive neurological dysfunction and infection susceptibility

Abbreviations: X-linked recessive, XR; autosomal recessive, AR; autosomal dominant, AD. Reviewed in [55,56,57,58].