Phenotypes associated with the disease Wiskott-Aldrich syndrome 2 (OMIM:614493):
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 1/1. (PMID:22231303)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:22231303)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/1. (PMID:22231303)
- 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:22231303)
- Abnormal T cell proliferation (HP:0031379): Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. Evidence: PCS. Frequency: 1/1. (PMID:22231303)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:22231303)
- Decreased total CD8+ T cell proportion (HP:0005415): Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 1/1. (PMID:22231303)