Phenotypes associated with the disease immunodeficiency 62 (OMIM:618459):
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 1/2. (PMID:30521495)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- 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: 2/2. (PMID:30521495)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- 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: 2/2. (PMID:30521495)
- Decreased memory B cell proportion (HP:0030374): A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- 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: 2/2. (PMID:30521495)
- Decreased circulating isohemagglutinin concentration (HP:0032139): Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). Evidence: PCS. Frequency: 1/1. (PMID:30521495)
- 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:30521495)
- Increased transitional B cell proportion (HP:0030381): Abnormal increase of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 1/2. (PMID:30521495)
- 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: 2/2. (PMID:30521495)
- Severe recurrent varicella (HP:0005428). Evidence: PCS. Frequency: 2/2. (PMID:30521495)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/2. (PMID:30521495)