Phenotypes associated with the disease immunodeficiency 67 (OMIM:607676):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. Frequency: 1/1. (PMID:16950813)
- Transiently decreased total neutrophil count (HP:0410255): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for less than 3 months and then spontaneously recovers, but does not recur cyclically. Evidence: PCS. (PMID:12637671)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 2/3. (PMID:12637671)
- 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: 1/1. (PMID:16950813)
- Recurrent streptococcal infections (HP:0020096): Increased susceptibility to streptococcal infections as manifested by recurrent episodes of streptococcal infections. Evidence: PCS. Frequency: 3/3. (PMID:12637671)
- Abnormal total T cell number (HP:0011839): Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 0/1. (PMID:16950813)
- 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:12637671)
- Septic arthritis (HP:0003095). Evidence: PCS. Frequency: 1/1. (PMID:16950813)
- Abnormal total B cell count (HP:0010975): The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 0/1. (PMID:16950813)
- Liver abscess (HP:0100523): A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. Evidence: PCS. Frequency: 1/3. (PMID:12637671)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:16950813)
- Abnormal total natural killer cell count (HP:0040089): Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. Evidence: PCS. Frequency: 0/1. (PMID:16950813)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12637671)
- Recurrent staphylococcal infections (HP:0007499): Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. Evidence: PCS. Frequency: 3/3. (PMID:12637671)
- 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:607676)