Phenotypes associated with the disease immunodeficiency 25 (OMIM:610163):
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of 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: 1/1. (PMID:16672702)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:16672702)
- Recurrent Candida infection (HP:0005401): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- Antimitochondrial antibody positivity (HP:0030167): The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. Evidence: PCS. Frequency: 1/2. (PMID:1635567)
- Protracted diarrhea (HP:0004385). Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:16672702)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:16672702)
- 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: 1/1. (PMID:16672702)
- Anti-smooth muscle antibody positivity (HP:0003262): The presence in serum of antibodies against smooth muscle. Evidence: PCS. Frequency: 1/2. (PMID:1635567)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/2. (PMID:1635567)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:16672702)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- 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:16672702)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:16672702)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- Decreased circulating IgG2 concentration (HP:0008348): A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:1635567)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 1/1. (PMID:16672702)
- 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:16672702)