Phenotypes associated with the disease immunodeficiency 89 and autoimmunity (OMIM:619632):
- Pleural thickening (HP:0031944): An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:32238915)
- Hypochromic microcytic anemia (HP:0004840): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Evidence: PCS. Frequency: 2/2. (PMID:32238915)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: PCS. Frequency: 2/2. (PMID:32238915)
- Asthma (HP:0002099): 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: 2/2. (PMID:32238915)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 1/1. (PMID:32238915)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Pulmonary bulla (HP:0032446): Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Reduced circulating interleukin 10 concentration (HP:0034163): An abnormally decreased concentration of interleukin 10 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Reduced circulating interleukin 27 concentration (HP:0034174): An abnormally decreased concentration of interleukin 27 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Reduced circulating interleukin 17A concentration (HP:0034177): An abnormally decreased concentration of interleukin 17A in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Reduced circulating interleukin 21 concentration (HP:0034165): An abnormally decreased concentration of interleukin 21 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Reduced circulating interleukin 22 concentration (HP:0034168): An abnormally decreased concentration of interleukin 22 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Decreased total eosinophil count (HP:0031891): Abnormal decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:32238915)
- 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:32238915)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: PCS. Frequency: 1/2. (PMID:32238915)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 2/2. (PMID:32238915)
- Reduced circulating interleukin 23 concentration (HP:0034171): An abnormally decreased concentration of interleukin 23 in the blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:32238915)