- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (OMIM:240500)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: IEA. (OMIM:240500)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:240500)
- 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: 0/5. (PMID:16007086)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. (OMIM:240500)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: IEA. (OMIM:240500)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 5/5. (PMID:16007086)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. (OMIM:240500)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:240500)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 4/5. (PMID:16007086)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:240500)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:240500)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 0/5. (PMID:16007086)
- Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide (HP:0410301): A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 4/4. (PMID:16007086)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: IEA. (OMIM:240500)
- 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: 5/5. (PMID:16007086)
- Abnormal T cell physiology (HP:0011840): A functional anomaly of T cells. Evidence: IEA. (OMIM:240500)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 5/5. (PMID:16007086)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:240500)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: IEA. (OMIM:240500)
- 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:18981294)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 5/5. (PMID:16007086)
- 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:16007086)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. (OMIM:240500)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 5/5. (PMID:16007086)
These phenotypes are associated with the disease immunodeficiency, common variable, 2 (OMIM:240500).