Traits

Traits linked to CYBB

cytochrome b-245 beta chain

The Human Phenotype Ontology links 51 traits to CYBB, by body system: features seen in people with one of the gene's rare conditions.

CYBB

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Always
Granuloma	Always
Recurrent pneumonia	Always
BCGosis	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Eczema	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Meningitis	Sometimes (5–29%)
Pulmonary tuberculosis	Sometimes (5–29%)
Absence of bactericidal oxidative respiratory burst in phagocytes	Not recorded
Decreased immune function	Not recorded
Discoid lupus rash	Not recorded
Recurrent Aspergillus infection	Not recorded
Recurrent bacterial skin infections	Not recorded
Recurrent Burkholderia cepacia infection	Not recorded
Recurrent Escherichia coli infection	Not recorded
Recurrent Klebsiella infection	Not recorded
Recurrent mycobacterial infections	Not recorded
Recurrent Serratia infection	Not recorded
Recurrent Staphylococcus aureus infection	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Always
Enlarged liver	Always
Abnormal connection between trachea and esophagus	Very often (80–99%)
Malabsorption	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)
Liver abscess	Sometimes (5–29%)
Rectal abscess	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes in center of chest	Very often (80–99%)
Increased spleen size	Sometimes (5–29%)
Inflammation of the lymph nodes	Not recorded
Swollen lymph nodes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Flat, discolored area of skin	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Photosensitive skin	Very often (80–99%)
Open skin sore	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Air bronchogram	Always
Cough	Always
Partial or complete collapse of part or entire lung	Always
Chronic pulmonary obstruction	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of neutrophils	Very often (80–99%)
Decreased neutrophil oxidative burst	Not recorded
Granulomatosis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Fluid around lungs	Always
Decreased activity of NADPH oxidase	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Sinus disease	Very often (80–99%)
Inflamed gums	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Deficiency or absence of cytochrome b(-245)	Not recorded

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Inflammatory abnormality of the eye	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CYBB and how often each is seen. Find out more at hpo.jax.org.

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