- Foam cells (HP:0003651): The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Enterocolitis (HP:0004387): An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 2/2. (PMID:31554793;PMID:33054089)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 0/1. (PMID:33054089)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- 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: 1/1. (PMID:33054089)
- Decreased CD8+ TEMRA T cell proportion (HP:0500266): An decreased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/2. (PMID:31554793;PMID:33054089)
- Recurrent sinopulmonary infections (HP:0005425): 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: 1/1. (PMID:31554793)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/2. (PMID:31554793;PMID:33054089)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- 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:31554793;PMID:33054089)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Increased double-negative T cell number (HP:0002851): Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:33054089)
- Bronchiolitis obliterans organizing pneumonia (HP:0011945): Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Decreased total monocyte count (HP:0012312): Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/2. (PMID:31554793;PMID:33054089)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Granuloma (HP:0032252): A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- 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:31554793)
- Decreased regulatory T cell proportion (HP:0020113): Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 2/2. (PMID:31554793;PMID:33054089)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 0/1. (PMID:33054089)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 2/2. (PMID:31554793;PMID:33054089)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:31554793)
- Decreased total CD8+ T cell proportion (HP:0005415): Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: IEA. Frequency: 1/1. (PMID:31554793)
These phenotypes are associated with the disease immunodeficiency 97 with autoinflammation (OMIM:619802).