Phenotypes associated with the disease immune dysregulation, autoimmunity, and autoinflammation (OMIM:620514):
- 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: 1/1. (PMID:37422272)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Increased circulating interleukin 6 concentration (HP:0030783): The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- 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:37422272)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Abnormal circulating C-reactive protein concentration (HP:0032436): Any deviation from the normal concentration of C-reactive protein in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Inguinal lymphadenopathy (HP:0034751): Enlarged lymph node located in the inguinal region (groin). Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Increased circulating interleukin 8 concentration (HP:0033178): An increased concentration of interleukin-8 in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 1/1. (PMID:37422272)
- 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:37422272)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 1/1. (PMID:37422272)