- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 3/4. (PMID:16672701)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/4. (PMID:16672701)
- Decreased class-switched memory B cell proportion (HP:0030388): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 4/4. (PMID:16672701)
- Combined immunodeficiency (HP:0005387): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: PCS. Frequency: 4/4. (PMID:16672701)
- 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: 0/4. (PMID:16672701)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:16672701)
- Chronic decreased circulating total IgG concentration (HP:0032134): A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 4/4. (PMID:16672701)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. (PMID:16672701)
- 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: 4/4. (PMID:16672701)
- 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: 0/4. (PMID:16672701)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:16672701)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 1/4. (PMID:16672701)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. (PMID:16672701)
- 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:16672701)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 4/4. (PMID:16672701)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:16672701)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 3/4. (PMID:16672701)
These phenotypes are associated with the disease immunodeficiency, common variable, 3 (OMIM:613493).