CYBA

Summary

CYBA (cytochrome b-245 alpha chain, HGNC:2577) is a protein-coding gene on chromosome 16q24.2, encoding Cytochrome b-245 light chain (P13498). Subunit of NADPH oxidase complexes that is required for the NADPH oxidase activity that generates, in various cell types, superoxide from molecular oxygen utilizing NADPH as an electron donor.

Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells.

Source: NCBI Gene 1535 — RefSeq curated summary.

At a glance

• Gene–disease (curated): granulomatous disease, chronic, autosomal recessive, cytochrome b-negative (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 531 total — 42 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 44
• Druggable target: yes
• MANE Select transcript: NM_000101

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2577
Approved symbol	CYBA
Name	cytochrome b-245 alpha chain
Location	16q24.2
Locus type	gene with protein product
Status	Approved
Aliases	p22-PHOX, p22phox
Ensembl gene	ENSG00000051523
Ensembl biotype	protein_coding
OMIM	608508
Entrez	1535

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 3 retained_intron

ENST00000261623, ENST00000562209, ENST00000563526, ENST00000565588, ENST00000566229, ENST00000566534, ENST00000567174, ENST00000568278, ENST00000569359, ENST00000696156, ENST00000696157, ENST00000696158, ENST00000696159, ENST00000696160, ENST00000696161, ENST00000696162, ENST00000696163, ENST00000967612, ENST00000967613

RefSeq mRNA: 1 — MANE Select: NM_000101 NM_000101

CCDS: CCDS32504

Canonical transcript exons

ENST00000261623 — 6 exons

Exon	Start	End
ENSE00003505980	88647101	88647175
ENSE00003651677	88646755	88646838
ENSE00003662503	88646116	88646197
ENSE00003670274	88648045	88648114
ENSE00003966246	88643289	88643571
ENSE00003966247	88650956	88651053

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 298.9461 / max 4697.4355, expressed in 1735 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158554	297.8962	1735
158551	0.9692	482
158553	0.0806	23

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.73	gold quality
monocyte	CL:0000576	99.72	gold quality
leukocyte	CL:0000738	99.67	gold quality
mononuclear cell	CL:0000842	99.67	gold quality
mucosa of transverse colon	UBERON:0004991	99.49	gold quality
spleen	UBERON:0002106	99.48	gold quality
bone marrow	UBERON:0002371	99.06	gold quality
right lung	UBERON:0002167	98.97	gold quality
right uterine tube	UBERON:0001302	98.91	gold quality
upper lobe of left lung	UBERON:0008952	98.82	gold quality
bone marrow cell	CL:0002092	98.81	gold quality
upper lobe of lung	UBERON:0008948	98.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.57	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.56	gold quality
right lobe of thyroid gland	UBERON:0001119	98.48	gold quality
blood	UBERON:0000178	98.33	gold quality
lymph node	UBERON:0000029	98.32	gold quality
endometrium epithelium	UBERON:0004811	98.32	gold quality
gall bladder	UBERON:0002110	98.31	gold quality
transverse colon	UBERON:0001157	98.30	gold quality
left lobe of thyroid gland	UBERON:0001120	98.24	gold quality
periodontal ligament	UBERON:0008266	98.21	gold quality
metanephros cortex	UBERON:0010533	98.08	gold quality
omental fat pad	UBERON:0010414	98.07	gold quality
peritoneum	UBERON:0002358	97.98	gold quality
minor salivary gland	UBERON:0001830	97.77	gold quality
right coronary artery	UBERON:0001625	97.75	gold quality
vermiform appendix	UBERON:0001154	97.72	gold quality
thoracic aorta	UBERON:0001515	97.65	gold quality
ascending aorta	UBERON:0001496	97.64	gold quality

Single-cell (SCXA)

Detected in 45 experiment(s), a significant marker in 36.

Experiment	Marker?	Max mean expression
E-MTAB-8207	yes	4568.64
E-MTAB-8495	yes	3329.40
E-MTAB-6701	yes	2139.28
E-MTAB-10855	yes	1801.12
E-HCAD-6	yes	1795.76
E-GEOD-134144	yes	1637.49
E-HCAD-8	yes	1636.81
E-HCAD-11	yes	1634.96
E-MTAB-9841	yes	1633.84
E-MTAB-10042	yes	1457.84
E-GEOD-124263	yes	1451.78
E-GEOD-114530	yes	1156.61
E-MTAB-8205	yes	499.52
E-MTAB-8381	yes	455.18
E-GEOD-111727	yes	434.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOS, JUN, PPARA, PPARG, RELA, SPI1

Literature-anchored findings (GeneRIF, showing 40)

• Anaplasma phagocytophila causes a change in p22phox. (PMID:11854221)
• p22(phox), gp91(phox), p47(phox), p67(phox), and p40(phox) existed as a functional complex in the cytoskeletal fraction. (PMID:11893732)
• Increased free radical production in hypertension due to increased expression of the NADPH oxidase subunit p22(phox) in lymphoblast cell lines. (PMID:11910303)
• Tumor necrosis factor-alpha increases airway smooth muscle oxidants production through a NADPH oxidase-like system to enhance myosin light chain phosphorylation and contractility. (PMID:11940577)
• mutagenesis of histidine 94 is not required for flavocytochrome b558 function (PMID:12042318)
• A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. (PMID:12073015)
• no association between a genetic variant and the incidence and progression of IgA nephropathy (PMID:12147803)
• Data show that the A640G and the C242T polymorphisms of p22(phox)-based NAD(P)H oxidase were not associated with severity of coronary artery disease and endothelial function. (PMID:12230880)
• In nonatherosclerotic aortic intima, the expression of p22phox by intimal smooth muscle cells is low; aortic fatty streaks contain higher levels of p22phox peptides, mostly localized in macrophages. (PMID:12482831)
• C242T mutation in p22 phox gene is associated with progression of asymptomatic atherosclerosis in type 2 diabetes and is also associated with insulin resistance in nondiabetic subjects. (PMID:12547880)
• decompensated type 2 diabetes is associated with increased NADPH oxidase subunit p22(phox) and hemeoxygenase-1 gene expressions in circulating monocytes (PMID:12679469)
• Identification of a new p22(phox)polymorphism associated with hypertension. (PMID:12729892)
• adenosine pretreatment of fMLF-stimulated neutrophils results in decreased plasma membrane/secretory granule content of the flavocytochrome b components p22phox and gp91phox of the NADPH oxidase, which correlates with inhibition of ROS production (PMID:12772776)
• results suggest that the CYBA C242T polymorphism is involved in NAD(P)H oxidase activity and affects oxidation of lipoproteins by altering the redox state in the vasculature (PMID:12927691)
• highly significant increase in the frequency of the T/T242 genotype in patients with nephropathy compared with those with retinopathy alone or no microvascular disease after 20 years’ diabetes duration (PMID:14578247)
• findings demonstrate that activator protein-1 activation in human smooth muscle cells in response to angiotensin II and platelet-derived growth factor-AA is mediated via generation of p22phox-dependent reactive oxygen species (PMID:14652666)
• NADPH p22phox C242T polymorphisms may be useful in identifying the risk for developing diabetic nephropathy in type 2 diabetic patients. (PMID:14747204)
• Superoxide production was significantly reduced by the C242T , but not the A640G or the -930A/G, polymorphism. Since p22phox exists in both the neutrophil & vessel wall, vascular oxidative stress is likely diminished in individuals with this polymorphism. (PMID:15078863)
• Binding of FAD to cytochrome b558 is facilitated during activation of the phagocyte NADPH oxidase (PMID:15102859)
• No assosication between p22-phox polymorphism and coronary disease in a low-risk Spanish population (PMID:15193812)
• Human p22phox (CYBA) -930A/G polymorphism associates with increased p22phox expression and NADPH oxidase activity in phagocytes of hypertensive patients. (PMID:15210651)
• Hypertensive subjects carrying the GG genotype of the p22phox -930A/G polymorphism are highly exposed to NADPH oxidase-mediated oxidative stress. (PMID:15210651)
• NAD(P)H oxidase activity is associated with increased protein levels of p22phox, p47phox, and p67phox, and increased p22phox and nox2 (gp91phox) mRNA expression. (PMID:15256399)
• significantly reduced at the Anaplasma phagocytophilum phagosome (PMID:15322037)
• p22phox directly interacts with Nox1 and Nox4, to form an superoxide-generating NADPH oxidase. (PMID:15322091)
• The significance of the G(-930)A polymorphism of CYBA in the pathogenesis of hypertension was confirmed; significant effects of the genotype on BP status were observed in the male, but not the female, population (PMID:15671602)
• These findings suggest a positive feedback mechanism whereby reactive oxygen species (ROS), possibly generated by the NADPH oxidase, lead to elevated levels of p22phox and, thus, sustained ROS generation as is observed in endothelial dysfunction. (PMID:15683718)
• Nox3 functions together with p22(phox) as an enzyme constitutively producing superoxide (PMID:15824103)
• The Nox4 requires p22phox for ROS generation and mutational analysis revealed structural requirements affecting expression of the p22phox protein and Nox activity. (PMID:15927447)
• Both regulatory subunit binding-dependent and -independent functions of p22(phox) are implicated in regulating reactive oxygen species production by NADPH oxidase (Nox) subunits (PMID:15994299)
• p22phox polymorphisms, especially A640G, were associated with differential changes in systemic oxidative stress with aerobic exercise training (PMID:16002772)
• the p22(phox) gene has a role in hypertension [review] (PMID:16115038)
• We identified a risk haplotype for nondiabetic end-stage renal disease in the CYBA gene using haplotype analysis. (PMID:16215641)
• Increased expression and activity of NAD(P)H oxidase subunits and xanthine oxidase, in part mediated through angiotensin II and PKC-dependent pathways, are important mechanisms underlying increased oxidative stress in human coronary artery disease (PMID:16293794)
• the C-terminal alpha-helical region of the p22phox peptide increases the binding affinity for the tandem SH3 domains of p47phox more than 10-fold (PMID:16326715)
• the CT+TT genotypes were independently associated with a higher risk of having overt nephropathy among smokers [odds ratio (OR)=6.76, 95% confidence interval (95% CI) 1.83-25.02]. (PMID:16358232)
• Pro152, Pro156 & Arg158 in the p22phox PRR are indispensable for interaction with p47phox. A region C-terminal to the PRR of p22phox (AA161-164), in an a-helical conformation, aids in full oxidase activation via the association with p47phox SH3. (PMID:16460309)
• In EH p22(phox) and PAI-1 mRNA and protein level was increased compared with C. In EH + D, doxazosin reduced p22(phox) and PAI-1 gene and protein expression, which was similar to that of C. (PMID:16546843)
• The results from this study reveal that cannabidiol, acting through CB2 and regulation of Nox4 and p22(phox) expression, may be a novel and highly selective treatment for leukemia. (PMID:16754784)
• These results support the increased risk of developing early coronary artery disease and of having rapid progression of coronary stenosis in subjects carrying the C242T nucleotide transition among the Italian population. (PMID:16788250)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyba	ENSDARG00000018283
mus_musculus	Cyba	ENSMUSG00000006519
rattus_norvegicus	Cyba	ENSRNOG00000013014

Protein

Protein identifiers

Cytochrome b-245 light chain — P13498 (reviewed: P13498)

Alternative names: Cytochrome b(558) alpha chain, Cytochrome b558 subunit alpha, Neutrophil cytochrome b 22 kDa polypeptide, Superoxide-generating NADPH oxidase light chain subunit, p22 phagocyte B-cytochrome, p22-phox

All UniProt accessions (14): A0A8Q3SIH4, A0A8Q3SIJ9, A0A8Q3SJ80, A0A8Q3WL14, A0A8Q3WL20, A0A8Q3WL26, A0A8Q3WL27, A0A8Q3WLM1, P13498, H3BNP7, H3BPX1, H3BPZ7, H3BR52, H3BT77

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of NADPH oxidase complexes that is required for the NADPH oxidase activity that generates, in various cell types, superoxide from molecular oxygen utilizing NADPH as an electron donor. Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction. Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane. This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox. Aassociates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.

Subunit / interactions. Component of the phagocyte NADPH oxidase core complex/cytochrome b558 complex, composed of CYBB (heavy chain (beta)) and CYBA (light chain (alpha)). Component of the phagocyte NADPH oxidase complex composed of an obligatory core heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic regulatory subunits NCF1/p47-phox, NCF2/p67-phox, NCF4/p40-phox and the small GTPase RAC1 or RAC2. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A. Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX4; this interaction mediates superoxide generation. Interacts with calprotectin (S100A8/9). Interacts with GBP7. Interacts with NOXO1. Forms a heterodimer with NOX3 and is essential for activity and cell membrane localization of NOX3. Interacts with NOX1.

Subcellular location. Cell membrane.

Post-translational modifications. Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting NCF1/p47-phox binding. Ubiquitinated at Lys-149 likely by RNF145.

Disease relevance. Granulomatous disease, chronic, autosomal recessive, 4 (CGD4) [MIM:233690] A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the p22phox family.

RefSeq proteins (1): NP_000092* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007732	Cyt_b558_asu	Family

Pfam: PF05038

UniProt features (43 total): sequence variant 16, helix 8, topological domain 6, transmembrane region 4, modified residue 2, initiator methionine 1, chain 1, region of interest 1, cross-link 1, mutagenesis site 1, strand 1, intramembrane region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7YXW	X-RAY DIFFRACTION	2.5
8WEJ	ELECTRON MICROSCOPY	2.79
8X2L	ELECTRON MICROSCOPY	2.99
7U8G	ELECTRON MICROSCOPY	3.2
8GZ3	ELECTRON MICROSCOPY	3.3
8KEI	ELECTRON MICROSCOPY	3.56
1WLP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13498-F1	77.28	0.40

Antibody-complex structures (SAbDab): 5 — 7U8G, 8GZ3, 8KEI, 8WEJ, 8X2L

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 147, 168, 149

Mutagenesis-validated functional residues (1):

Position	Phenotype
157	loss of interaction with noxo1.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-1222556	ROS and RNS production in phagocytes
R-HSA-1236973	Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-3299685	Detoxification of Reactive Oxygen Species
R-HSA-4420097	VEGFA-VEGFR2 Pathway
R-HSA-5668599	RHO GTPases Activate NADPH Oxidases
R-HSA-6798695	Neutrophil degranulation
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-9673324	WNT5:FZD7-mediated leishmania damping

MSigDB gene sets: 555 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MODULE_93, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_IONIZING_RADIATION, REACTOME_INNATE_IMMUNE_SYSTEM, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID

GO Biological Process (38): response to hypoxia (GO:0001666), positive regulation of endothelial cell proliferation (GO:0001938), negative regulation of glomerular filtration by angiotensin (GO:0003106), superoxide metabolic process (GO:0006801), inflammatory response (GO:0006954), response to xenobiotic stimulus (GO:0009410), response to activity (GO:0014823), smooth muscle hypertrophy (GO:0014895), cytochrome complex assembly (GO:0017004), positive regulation of cell growth (GO:0030307), response to nutrient levels (GO:0031667), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), positive regulation of superoxide anion generation (GO:0032930), positive regulation of toll-like receptor 2 signaling pathway (GO:0034137), superoxide anion generation (GO:0042554), innate immune response (GO:0045087), respiratory burst (GO:0045730), positive regulation of smooth muscle cell proliferation (GO:0048661), hydrogen peroxide biosynthetic process (GO:0050665), positive regulation of phagocytosis (GO:0050766), regulation of release of sequestered calcium ion into cytosol (GO:0051279), establishment of localization in cell (GO:0051649), mucus secretion (GO:0070254), positive regulation of mucus secretion (GO:0070257), response to interleukin-1 (GO:0070555), cellular response to mechanical stimulus (GO:0071260), cellular response to glucose stimulus (GO:0071333), cellular response to tumor necrosis factor (GO:0071356), cellular response to gamma radiation (GO:0071480), positive regulation of defense response to bacterium (GO:1900426), positive regulation of reactive oxygen species biosynthetic process (GO:1903428), response to aldosterone (GO:1904044), cellular response to angiotensin (GO:1904385), cellular response to phorbol 13-acetate 12-myristate (GO:1904628), cellular response to L-glutamine (GO:1904845), positive regulation of blood pressure (GO:0045777), reactive oxygen species metabolic process (GO:0072593)

GO Molecular Function (8): electron transfer activity (GO:0009055), superoxide-generating NAD(P)H oxidase activity (GO:0016175), SH3 domain binding (GO:0017124), heme binding (GO:0020037), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (16): stress fiber (GO:0001725), endosome (GO:0005768), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), focal adhesion (GO:0005925), membrane (GO:0016020), apical plasma membrane (GO:0016324), secretory granule (GO:0030141), dendrite (GO:0030425), phagocytic vesicle membrane (GO:0030670), specific granule membrane (GO:0035579), NADPH oxidase complex (GO:0043020), neuronal cell body (GO:0043025), tertiary granule membrane (GO:0070821), perinuclear endoplasmic reticulum (GO:0097038), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
RHO GTPase cycle	3
Innate Immune System	2
Antigen processing-Cross presentation	1
Cellular response to chemical stress	1
Signaling by VEGF	1
RHO GTPase Effectors	1
Killing mechanisms	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
response to stimulus	2
endomembrane system	2
secretory granule membrane	2
response to stress	1
response to decreased oxygen levels	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
negative regulation of renal output by angiotensin	1
negative regulation of glomerular filtration	1
reactive oxygen species metabolic process	1
defense response	1
response to chemical	1
smooth muscle adaptation	1
muscle hypertrophy	1
protein-containing complex assembly	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
positive regulation of cellular process	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
regulation of superoxide anion generation	1
superoxide anion generation	1
positive regulation of reactive oxygen species metabolic process	1
toll-like receptor 2 signaling pathway	1
regulation of toll-like receptor 2 signaling pathway	1
positive regulation of pattern recognition receptor signaling pathway	1
superoxide metabolic process	1
immune response	1
defense response to symbiont	1
metabolic process	1
positive regulation of cell population proliferation	1
smooth muscle cell proliferation	1
regulation of smooth muscle cell proliferation	1

Protein interactions and networks

STRING

1550 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYBA	CYBB	P04839	999
CYBA	NCF1	P14598	999
CYBA	NCF2	P19878	999
CYBA	NCF4	Q15080	999
CYBA	NOXA1	Q86UR1	999
CYBA	NOX1	Q9Y5S8	999
CYBA	NOXO1	Q8NFA2	998
CYBA	NOX4	Q9NPH5	998
CYBA	NOX3	Q9HBY0	996
CYBA	RAC2	P15153	996
CYBA	POLDIP2	Q9Y2S7	994
CYBA	AKT1	P31749	992
CYBA	NOX5	Q96PH1	989
CYBA	DUOX1	Q9NRD9	956
CYBA	RAP1A	P10113	947

IntAct

67 interactions, top by confidence:

A	B	Type	Score
NCF1	CYBA	psi-mi:“MI:0407”(direct interaction)	0.740
CYBA	NCF1	psi-mi:“MI:0407”(direct interaction)	0.740
CYBA	NOXO1	psi-mi:“MI:0407”(direct interaction)	0.710
NOXO1	CYBA	psi-mi:“MI:0407”(direct interaction)	0.710
SLC12A2	CLGN	psi-mi:“MI:0914”(association)	0.640
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
MDFI	CYBA	psi-mi:“MI:0915”(physical association)	0.490
RFK	CYBA	psi-mi:“MI:0914”(association)	0.460
NCF4	CYBA	psi-mi:“MI:0407”(direct interaction)	0.440
CYBA	NCF4	psi-mi:“MI:0407”(direct interaction)	0.440
NOXO1	CYBA	psi-mi:“MI:0407”(direct interaction)	0.440
CYBA	NOXO1	psi-mi:“MI:0407”(direct interaction)	0.440
CYBA	CPT1A	psi-mi:“MI:0915”(physical association)	0.370
RCHY1	CYBA	psi-mi:“MI:0915”(physical association)	0.370
TNFRSF1A	CYBB	psi-mi:“MI:0914”(association)	0.350
CYBA	TNFRSF1A	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350

BioGRID (82): PSMA3 (Two-hybrid), RBPMS (Two-hybrid), CYBA (Affinity Capture-MS), APPBP2 (Two-hybrid), APPBP2 (Reconstituted Complex), APPBP2 (Far Western), APPBP2 (Affinity Capture-Western), CYBA (Affinity Capture-MS), CYBA (Affinity Capture-Western), CYBA (Affinity Capture-Western), CYBA (Co-fractionation), BCAP31 (Co-fractionation), CYBA (Co-fractionation), CYBA (Reconstituted Complex), CYBA (Proximity Label-MS)

ESM2 similar proteins: A1CKG4, A1D708, A2XSY1, A4R2N5, A6QRX6, A6RRF7, A7EMV1, B0XXU1, B2AR67, O46521, O95214, O95807, P13498, P52650, Q0CNZ5, Q0JDK9, Q0V0G4, Q17QF8, Q1E1E0, Q28F21, Q2GSS4, Q32PD8, Q39080, Q3ZBX1, Q4WXT2, Q566G2, Q5PQQ4, Q5R5Z8, Q5RDE9, Q61462, Q62737, Q6CC06, Q6GM42, Q6GPA8, Q6P0C7, Q6PDU4, Q7S693, Q8K3C0, Q8TAC9, Q92535

Diamond homologs: O46521, P13498, P52650, Q61462, Q62737, Q95L73, Q95MN4, Q9N2H0, Q867X6

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
NCF1	“up-regulates activity”	CYBA	binding
CYBA	“form complex”	“Phagocyte NADPH oxidase complex”	binding
PRKCA	up-regulates	CYBA	phosphorylation
PRKCD	up-regulates	CYBA	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RAC3 GTPase cycle	5	11.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
superoxide anion generation	5	45.5×	4e-05
response to xenobiotic stimulus	7	6.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

531 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	42
Likely pathogenic	26
Uncertain significance	146
Likely benign	245
Benign	26

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032885	NM_000101.4(CYBA):c.393G>A (p.Trp131Ter)	Pathogenic
1071345	NM_000101.4(CYBA):c.111C>G (p.Tyr37Ter)	Pathogenic
1072119	NM_000101.4(CYBA):c.166dup (p.Arg56fs)	Pathogenic
1074797	NC_000016.9:g.(?88713499)(88714532_?)del	Pathogenic
1371434	NM_000101.4(CYBA):c.399del (p.Ile134fs)	Pathogenic
1429693	NC_000016.9:g.(?88713499)(88718353_?)del	Pathogenic
1458360	NC_000016.9:g.(?88717354)(88718353_?)del	Pathogenic
1458496	NM_000101.4(CYBA):c.17G>A (p.Trp6Ter)	Pathogenic
1458628	NC_000016.9:g.(?88712514)(88718096_?)del	Pathogenic
1489230	NM_000101.4(CYBA):c.59-2A>T	Pathogenic
1967713	NM_000101.4(CYBA):c.68_76del (p.Thr23_Gly25del)	Pathogenic
2256	NC_000016.10:g.(?_88638115)(88648115_88650955)del	Pathogenic
2262	NM_000101.4(CYBA):c.287+1G>A	Pathogenic
2264	NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)	Pathogenic
2266	NM_000101.4(CYBA):c.288-13_310del	Pathogenic
2267	NM_000101.4(CYBA):c.373G>A (p.Ala125Thr)	Pathogenic
2736377	NM_000101.4(CYBA):c.107G>A (p.Trp36Ter)	Pathogenic
2755870	NM_000101.4(CYBA):c.109dup (p.Tyr37fs)	Pathogenic
2817163	NM_000101.4(CYBA):c.18G>A (p.Trp6Ter)	Pathogenic
2907500	NM_000101.4(CYBA):c.246_273del (p.Phe83fs)	Pathogenic
2968090	NM_000101.4(CYBA):c.467del (p.Pro156fs)	Pathogenic
3008362	NM_000101.4(CYBA):c.103C>T (p.Gln35Ter)	Pathogenic
3065668	NM_000101.4(CYBA):c.369+1G>T	Pathogenic
3243439	NC_000016.9:g.(?88709761)(88717421_?)del	Pathogenic
3243440	NC_000016.9:g.(?88713143)(88717421_?)del	Pathogenic
3640816	NM_000101.4(CYBA):c.433G>T (p.Gly145Ter)	Pathogenic
3725589	NM_000101.4(CYBA):c.288-2A>G	Pathogenic
4535536	NC_000016.9:g.(?88709696)(88717462_?)del	Pathogenic
4817432	NM_000101.4(CYBA):c.58+2T>G	Pathogenic
596212	NM_000101.4(CYBA):c.415del (p.Arg139fs)	Pathogenic

SpliceAI

1427 predictions. Top by Δscore:

Variant	Effect	Δscore
16:88646111:CTCA:C	donor_loss	1.0000
16:88646112:TCA:T	donor_loss	1.0000
16:88646113:CACCA:C	donor_loss	1.0000
16:88646115:C:CA	donor_loss	1.0000
16:88646753:A:AC	donor_gain	1.0000
16:88646754:C:CC	donor_gain	1.0000
16:88650954:A:AC	donor_gain	1.0000
16:88650955:C:CC	donor_gain	1.0000
16:88650955:CT:C	donor_gain	1.0000
16:88646110:ACTCA:A	donor_loss	0.9900
16:88646114:A:AC	donor_gain	0.9900
16:88646115:C:CC	donor_gain	0.9900
16:88646194:GAGC:G	acceptor_gain	0.9900
16:88646195:AGCCT:A	acceptor_loss	0.9900
16:88646196:GC:G	acceptor_gain	0.9900
16:88646196:GCCTG:G	acceptor_loss	0.9900
16:88646197:CC:C	acceptor_gain	0.9900
16:88646198:C:CC	acceptor_gain	0.9900
16:88646198:CT:C	acceptor_loss	0.9900
16:88646199:T:C	acceptor_loss	0.9900
16:88646209:CGGG:C	acceptor_gain	0.9900
16:88646210:G:T	acceptor_gain	0.9900
16:88646836:CCC:C	acceptor_gain	0.9900
16:88646837:CC:C	acceptor_gain	0.9900
16:88646837:CCC:C	acceptor_gain	0.9900
16:88646838:CC:C	acceptor_gain	0.9900
16:88647182:CCA:C	acceptor_gain	0.9900
16:88647183:C:CT	acceptor_gain	0.9900
16:88647184:A:C	acceptor_gain	0.9900
16:88648115:C:CC	acceptor_gain	0.9900

AlphaMissense

1231 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:88643548:C:A	W131C	0.999
16:88643548:C:G	W131C	0.999
16:88643550:A:G	W131R	0.999
16:88643550:A:T	W131R	0.999
16:88646131:G:C	S118R	0.999
16:88646131:G:T	S118R	0.999
16:88646133:T:G	S118R	0.999
16:88646157:C:A	G110W	0.999
16:88646157:C:G	G110R	0.999
16:88646157:C:T	G110R	0.999
16:88650987:C:A	W9C	0.999
16:88650987:C:G	W9C	0.999
16:88650989:A:G	W9R	0.999
16:88650989:A:T	W9R	0.999
16:88650998:A:G	W6R	0.999
16:88650998:A:T	W6R	0.999
16:88646156:C:T	G110E	0.998
16:88647168:C:G	G46R	0.998
16:88648100:C:G	G25R	0.998
16:88650962:C:G	G18R	0.998
16:88650996:C:A	W6C	0.998
16:88650996:C:G	W6C	0.998
16:88646144:A:G	L114P	0.997
16:88647144:A:C	Y54D	0.997
16:88647167:C:T	G46D	0.997
16:88648074:G:C	F33L	0.997
16:88648074:G:T	F33L	0.997
16:88648076:A:G	F33L	0.997
16:88650961:C:T	G18D	0.997
16:88650980:C:T	E12K	0.997

dbSNP variants (sampled 300 via entrez): RS1000166971 (16:88645769 C>T), RS1000370025 (16:88648463 C>A,T), RS1000510917 (16:88652000 A>C,G), RS1000603799 (16:88644512 G>A,C,T), RS1000667256 (16:88652372 A>T), RS1001429506 (16:88652603 C>T), RS1001520966 (16:88652743 T>C), RS1001664999 (16:88646162 A>G,T), RS1001706757 (16:88653021 G>A), RS1001725744 (16:88649145 G>A,C,T), RS1001727646 (16:88644772 C>T), RS1001762932 (16:88649655 G>A), RS1001791471 (16:88643302 G>A,C,T), RS1001843742 (16:88643161 G>A), RS1002098279 (16:88650417 G>A)

Disease associations

OMIM: gene MIM:608508 | disease phenotypes: MIM:233690, MIM:306400, MIM:240300, MIM:138990

GenCC curated gene-disease

Disease	Classification	Inheritance
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Definitive	Autosomal recessive
chronic granulomatous disease	Supportive	Autosomal recessive

Mondo (4): granulomatous disease, chronic, autosomal recessive, cytochrome b-negative (MONDO:0009308), chronic granulomatous disease (MONDO:0018305), autoimmune polyendocrine syndrome type 1 (MONDO:0009411), granulomatous disease, chronic, X-linked (MONDO:0010600)

Orphanet (2): Chronic granulomatous disease (Orphanet:379), Autoimmune polyendocrinopathy type 1 (Orphanet:3453)

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000230	Gingivitis
HP:0000246	Sinusitis
HP:0000388	Otitis media
HP:0000964	Eczematoid dermatitis
HP:0000992	Cutaneous photosensitivity
HP:0001034	Hypermelanotic macule
HP:0001287	Meningitis
HP:0001744	Splenomegaly
HP:0001874	Abnormality of neutrophils
HP:0001945	Fever
HP:0002021	Pyloric stenosis
HP:0002024	Malabsorption
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002575	Tracheoesophageal fistula
HP:0002716	Lymphadenopathy
HP:0002721	Immunodeficiency
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
HP:0002724	Recurrent Aspergillus infections
HP:0002726	Recurrent Staphylococcus aureus infections
HP:0002740	Recurrent E. coli infections
HP:0002741	Recurrent Serratia marcescens infections
HP:0002742	Recurrent Klebsiella infections
HP:0002754	Osteomyelitis
HP:0002840	Lymphadenitis
HP:0002842	Recurrent Burkholderia cepacia infections
HP:0002955	Granulomatosis
HP:0003203	Decreased neutrophil oxidative burst
HP:0003206	Decreased activity of NADPH oxidase

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002390_5	Glycated hemoglobin levels	1.000000e-08
GCST003479_9	Hair color	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004541	HbA1c measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D006105	Granulomatous Disease, Chronic	C15.378.553.774.535; C16.320.322.233; C20.673.774.535; C23.550.291.500.423
C564210	Granulomatous Disease, Chronic, Autosomal Dominant Type (supp.)
C565533	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1613744 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

4 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs4673	Other	3	simvastatin	Hypercholesterolemia
rs4673	Toxicity	3	doxorubicin;idarubicin	Neoplasms
rs4673	Efficacy,Toxicity	3	doxorubicin;idarubicin	Neoplasms
rs4673	Toxicity	3	cisplatin;doxorubicin	Anemia;Mucositis;Osteosarcoma

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4673	CYBA	3	5.25	4	doxorubicin;idarubicin;simvastatin;cisplatin;doxorubicin

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.14	Kd	7281	nM	CHEMBL5653589
5.14	ED50	7281	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148186: Binding affinity to human CYBA incubated for 45 mins by Kinobead based pull down assay	kd	7.2815	uM

CTD chemical–gene interactions

101 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	increases expression	4
sodium arsenite	affects cotreatment, decreases expression, increases expression	3
Acetaminophen	affects cotreatment, increases expression, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Glucose	increases expression, decreases expression, decreases reaction	3
Tetrachlorodibenzodioxin	increases expression	3
Tetradecanoylphorbol Acetate	decreases reaction, increases expression, affects reaction, decreases expression, increases reaction (+1 more)	3
Aflatoxin B1	decreases expression, increases expression	3
lasiocarpine	decreases expression	2
methyleugenol	decreases expression	2
ochratoxin A	increases acetylation, increases expression	2
chloropicrin	affects expression, decreases expression	2
Arsenic Trioxide	increases expression	2
Arsenic	affects response to substance	2
Estradiol	increases expression	2
Hydrogen Peroxide	decreases reaction, increases expression	2
Lipopolysaccharides	increases secretion, affects cotreatment, increases expression, affects reaction	2
N-Nitrosopyrrolidine	decreases expression	2
Plant Extracts	decreases reaction, increases expression, increases reaction	2
Quercetin	decreases reaction, increases expression	2
Superoxides	increases abundance, increases reaction	2
Tobacco Smoke Pollution	increases expression, increases reaction	2
Valproic Acid	increases expression, increases methylation	2
Cyclosporine	decreases reaction, decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
naringin	decreases reaction, increases expression	1
triphenyl phosphate	affects expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651228	Binding	Binding affinity to human CYBA incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

4 cell lines: 3 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2VH	Abcam HEK293T CYBA KO	Transformed cell line	Female
CVCL_V326	CHO-22	Spontaneously immortalized cell line	Female
CVCL_V328	CHO-91-22	Spontaneously immortalized cell line	Female
CVCL_V329	CHO-91-22-47-67	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

69 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00001317	PHASE4	COMPLETED	A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood
NCT00023192	PHASE3	COMPLETED	Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care
NCT00033982	PHASE3	COMPLETED	Posaconazole to Treat Invasive Fungal Infections
NCT00006417	PHASE2	COMPLETED	Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease
NCT00578643	PHASE2	COMPLETED	Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
NCT00799071	PHASE2	COMPLETED	Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD)
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT01998633	PHASE2	COMPLETED	Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT03547830	PHASE2	UNKNOWN	Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients
NCT03983837	PHASE2	COMPLETED	Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00743782	PHASE2	COMPLETED	Comparing Pump With Subcutaneous Injection Delivery of PTH 1-34 in the Management of Chronic Hypoparathyroidism
NCT05398809	PHASE2	RECRUITING	Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
NCT00001476	PHASE1	COMPLETED	Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up
NCT00001515	PHASE1	COMPLETED	Diagnostic Effectiveness of Virtual Bronchoscopy
NCT00001765	PHASE1	COMPLETED	Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02609932	PHASE1	COMPLETED	Effect of IFN-γ on Innate Immune Cells
NCT05189925	PHASE1	RECRUITING	NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
NCT03984890	PHASE2/PHASE3	COMPLETED	Vitamin D3 For CGD Patients With BCGosis/Itis
NCT00325078	PHASE1/PHASE2	TERMINATED	Infliximab to Treat Crohn’S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease
NCT00564759	PHASE1/PHASE2	UNKNOWN	Gene Therapy for Chronic Granulomatous Disease
NCT00778882	PHASE1/PHASE2	WITHDRAWN	Gene Therapy for Chronic Granulomatous Disease in Korea
NCT00927134	PHASE1/PHASE2	COMPLETED	Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children
NCT01338675	PHASE1/PHASE2	UNKNOWN	Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD)
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT02282904	PHASE1/PHASE2	TERMINATED	Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide
NCT03080480	PHASE1/PHASE2	TERMINATED	Pioglitazone Therapy for Chronic Granulomatous Disease
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT05104723	PHASE1/PHASE2	COMPLETED	Safety and Efficacy of Tofacitinib for Chronic Granulomatous Disease With Inflammatory Complications
NCT05463133	PHASE1/PHASE2	RECRUITING	Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease (CGD) With an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined With Cytokine (IL-6, +/- IFN-gamma) Antagonists
NCT06253507	PHASE1/PHASE2	ENROLLING_BY_INVITATION	pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
NCT06325709	PHASE1/PHASE2	RECRUITING	Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease
NCT06559176	PHASE1/PHASE2	ENROLLING_BY_INVITATION	A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
NCT07113743	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Part B- G1X-CGD (Lentiviral Vector Transduced CD34+ Cells) in Patients With X-Linked Chronic Granulomatous Disease
NCT00394316	EARLY_PHASE1	TERMINATED	Gene Therapy for Chronic Granulomatous Disease
NCT03910452	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Haploidentical Transplant for People With Chronic Granulomatous Disease (CGD) Using Alemtuzumab, Busulfan and TBI With Post-Transplant Cyclophosphamide
NCT03921515	EARLY_PHASE1	WITHDRAWN	Skin Immunity Sample Collection Involving Blisters and Biopsies