- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: PCS. Frequency: 2/10. (PMID:33087723)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/10. (PMID:33087723)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Decreased class-switched memory B cell proportion (HP:0030388): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 7/10. (PMID:33087723)
- Anti-dsDNA antibody positivity (HP:0020151): The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. Evidence: PCS. Frequency: 3/9. (PMID:33087723)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 5/9. (PMID:33087723)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Spondylitis (HP:0033631): Inflammation of the vertebrae (vertebral bodies) or spine. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Anti-U1 ribonucleoprotein antibody positivity (HP:0033028): The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. Evidence: PCS. Frequency: 5/9. (PMID:33087723)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/10. (PMID:33087723)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/10. (PMID:33087723)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Decreased marginal zone B cell proportion (HP:0030384): A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. Evidence: PCS. Frequency: 7/10. (PMID:33087723)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/10. (PMID:33087723)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: PCS. Frequency: 2/10. (PMID:33087723)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 3/10. (PMID:33087723)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/10. (PMID:33087723)
- Autosomal dominant inheritance (HP:0000006): 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:33087723)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/10. (PMID:33087723)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: PCS. Frequency: 3/9. (PMID:33087723)
These phenotypes are associated with the disease autoinflammatory syndrome with immunodeficiency (OMIM:619375).