- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/4. (PMID:31874111)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 3/3. (PMID:35289316)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 3/3. (PMID:35289316)
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide (HP:0410300): The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 1/4. (PMID:31874111)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:35289316)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 4/4. (PMID:31874111)
- Chorioretinitis (HP:0012424): An inflammation of the choroid and retina. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
- Panuveitis (HP:0012121): Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
- Anterior uveitis (HP:0012122): Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. Evidence: PCS. Frequency: 3/7. (PMID:35289316;PMID:31874111)
- Optic neuritis (HP:0100653): Inflammation of the optic nerve. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:31874111)
- Panniculitis (HP:0012490): Inflammation of subcutaneous adipose tissue. Evidence: PCS. Frequency: 3/3. (PMID:35289316)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 3/3. (PMID:35289316)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 3/4. (PMID:31874111)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/3. (PMID:35289316)
These phenotypes are associated with the disease autoinflammatory disease, X-linked (OMIM:301081).