- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 3/4. (PMID:31449058;PMID:31629014)
- Borderline intellectual disability (HP:0006889): Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. Evidence: PCS. Frequency: 2/4. (PMID:31449058;PMID:31629014)
- Decreased naive CD4+ T cell proportion (HP:0410378): The proportion of naive CD4 T cells relative to the total number of T cells is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 2/2. (PMID:31449058;PMID:31629014)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/1. (PMID:31629014)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 1/4. (PMID:31449058;PMID:31629014)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295): The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/3. (PMID:31629014)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:31629014)
- 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: 1/1. (PMID:31449058)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 4/4. (PMID:31449058;PMID:31629014)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/2. (PMID:31629014)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/3. (PMID:31629014)
- Recurrent shingles (HP:0032275): Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. Evidence: PCS. Frequency: 1/2. (PMID:31449058;PMID:31629014)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 3/4. (PMID:31449058;PMID:31629014)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Recurrent oral herpes (HP:0410028): Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. Evidence: PCS. Frequency: 3/4. (PMID:31449058;PMID:31629014)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 3/4. (PMID:31449058;PMID:31629014)
- 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:31449058)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 3/4. (PMID:31449058;PMID:31629014)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. Frequency: 1/1. (PMID:31449058)
These phenotypes are associated with the disease immunodeficiency 120 (OMIM:620836).