- Recurrent urinary tract infections (HP:0000010, a Human Phenotype Ontology term): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/3. (PMID:26385063)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/3. (PMID:26385063)
- Asthma (HP:0002099, a Human Phenotype Ontology term): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 1/3. (PMID:26385063)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:26385063)
- Impaired phytohemagglutinin-induced T lymphocyte transformation (HP:0025834, a Human Phenotype Ontology term): Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. Evidence: PCS. Frequency: 3/3. (PMID:26385063)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:26385063)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/3. (PMID:26385063)
- Chronic cough (HP:0034315, a Human Phenotype Ontology term): A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children. Evidence: PCS. Frequency: 3/3. (PMID:26385063)
- Recurrent pneumonia (HP:0006532, a Human Phenotype Ontology term): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 3/3. (PMID:26385063)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: PCS. Frequency: 1/3. (PMID:26385063)
- Recurrent upper respiratory tract infections (HP:0002788, a Human Phenotype Ontology term): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 1/3. (PMID:26385063)
- Increased total neutrophil count (HP:0011897, a Human Phenotype Ontology term): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 3/3. (PMID:26385063)
These phenotypes are associated with the disease immunodeficiency 53 (OMIM:617585, an entry in Online Mendelian Inheritance in Man).