Phenotypes associated with the disease Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (OMIM:614892):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:11452125)
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 1/2. (PMID:11452125)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:11452125)
- Recurrent mycobacterium avium complex infections (HP:0011275): Increased susceptibility to mycobacterial avium complex infections as manifested by recurrent episodes of mycobacterial infection. Evidence: PCS. Frequency: 1/2. (PMID:11452125)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:614892)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. Frequency: 1/2. (PMID:11452125)
- HSV encephalitis (HP:0012302): Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. Evidence: IEA. (OMIM:614892)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11452125)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: IEA. (OMIM:614892)