Phenotypes associated with the disease hyper-IgM syndrome type 2 (OMIM:605258):
- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: PCS. Frequency: 18/18. (PMID:11007475)
- Recurrent upper and lower respiratory tract infections (HP:0200117): Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections. Evidence: PCS. (PMID:11007475)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 15/18. (PMID:11007475)
- 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. (PMID:11007475)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 18/18. (PMID:11007475)
- Impaired Ig class switch recombination (HP:0002959): An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. Evidence: PCS. (PMID:11007475)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 18/18. (PMID:11007475)
- 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:11007475)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 13/18. (PMID:11007475)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 18/18. (PMID:11007475)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 18/18. (PMID:11007475)
- 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: PCS. (PMID:11007475)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 18/18. (PMID:11007475)