- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- Lung abscess (HP:0025044): A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- Decreased specific antibody response to unconjugated polysaccharide vaccine (HP:0410299): A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/2. (PMID:25702838)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:241600)
- Abnormal circulating IgM concentration (HP:0410243): An abnormal deviation from normal levels of IgM immunoglobulin in blood. Evidence: PCS. Frequency: 0/2. (PMID:25702838)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/2. (PMID:25702838)
- Abnormal circulating IgA concentration (HP:0410240): An abnormal deviation from normal levels of IgA immunoglobulin in blood. Evidence: PCS. Frequency: 0/2. (PMID:25702838)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: PCS. Frequency: 2/2. (PMID:25702838)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:16549777;PMID:25702838)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- Organizing pneumonia (HP:0033670): Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
- 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:16549777)
- Decreased circulating beta-2-microglobulin concentration (HP:0025347): The concentration of beta-2-microglobulin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:16549777;PMID:25702838)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. (OMIM:241600)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:25702838)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 4/4. (PMID:16549777;PMID:25702838)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:25702838)
These phenotypes are associated with the disease hypoproteinemia, hypercatabolic (OMIM:241600).