- Recurrent sinopulmonary infections (HP:0005425, a Human Phenotype Ontology term): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: PCS. Frequency: 2/20. (PMID:26279205)
- Pyoderma gangrenosum (HP:0025452, a Human Phenotype Ontology term): A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. Evidence: PCS. Frequency: 1/20. (PMID:26279205)
- Decreased circulating immunoglobulin concentration (HP:0004313, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. (PMID:26279205)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/13. (PMID:26279205)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 3/20. (PMID:26279205)
- Atrophic gastritis (HP:0002582, a Human Phenotype Ontology term): Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. Evidence: PCS. Frequency: 1/20. (PMID:26279205)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/20. (PMID:26279205)
- Combined immunodeficiency (HP:0005387, a Human Phenotype Ontology term): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: PCS. Frequency: 14/20. (PMID:26279205)
- Autoimmune hemolytic anemia (HP:0001890, a Human Phenotype Ontology term): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 2/20. (PMID:26279205)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 10/13. (PMID:26279205)
- Recurrent skin infections (HP:0001581, a Human Phenotype Ontology term): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 1/20. (PMID:26279205)
- Recurrent sinusitis (HP:0011108, a Human Phenotype Ontology term): A recurrent form of sinusitis. Evidence: PCS. Frequency: 3/20. (PMID:26279205)
- Recurrent infections (HP:0002719, a Human Phenotype Ontology term): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. (PMID:26279205)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. Frequency: 2/13. (PMID:26279205)
- Chronic pulmonary obstruction (HP:0006510, a Human Phenotype Ontology term): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: PCS. Frequency: 4/20. (PMID:26279205)
- 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: 8/20. (PMID:26279205)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 3/20. (PMID:26279205)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26279205)
These phenotypes are associated with the disease immunodeficiency, common variable, 12 (OMIM:616576, an entry in Online Mendelian Inheritance in Man).