Phenotypes associated with the disease immunodeficiency, common variable, 7 (OMIM:614699):
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- 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:22035880)
- Pharyngalgia (HP:0033050): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Chronic absent circulating IgG4 (HP:0041059): A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Decreased circulating specific pneumococcal antibody concentration (HP:0012476): The concentration in the blood circulation of specific immunoglobulins directed against pneumococci is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. (PMID:22035880)
- Chronic decreased circulating IgG1 concentration (HP:0041068): A lasting decrease of immunoglobulin G1 (IgG1) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Decreased circulating total IgG concentration (HP:0032132): A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- 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:22035880)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:22035880)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: 1/1. (PMID:22035880)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 1/1. (PMID:22035880)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:22035880)