Phenotypes associated with the disease immunodeficiency 134 (Epstein-Barr virus-specific) (OMIM:621405):
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Persistent EBV viremia (HP:0020072): Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 2/3. (PMID:38509369)
- Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295): The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Decreased memory B cell proportion (HP:0030374): A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). Evidence: PCS. Frequency: 2/3. (PMID:38509369)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:38509369)
- Decreased effector memory CD8+ T cell proportion (HP:0410390): A reduced proportion of CD8-positive effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. Evidence: PCS. Frequency: 3/3. (PMID:38509369)
- Hyperleukocytosis (HP:6001425): Hyperleukocytosis is commonly defined as a white blood cell (WBC) count of greater than 100,000 luekocytes per microliter. Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Abnormal platelet count (HP:0011873): Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. Evidence: PCS. Frequency: 0/1. (PMID:38509369)
- Unusual bronchiolitis (HP:0011950): Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Pharyngalgia (HP:0033050): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Severe viral infection (HP:0031691): An unusually severe viral infection. Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:38509369)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/3. (PMID:38509369)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 3/3. (PMID:38509369)
- Increased total lymphocyte count (HP:0100827): Increase in the number or proportion of lymphocytes in the blood. Evidence: PCS. Frequency: 0/1. (PMID:38509369)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Increased total B cell count (HP:0005404): The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Abnormal circulating bilirubin concentration (HP:0033479). Evidence: PCS. Frequency: 0/1. (PMID:38509369)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 1/1. (PMID:38509369)
- Decreased effector memory CD4+ T cell proportion (HP:0025624): An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. Evidence: PCS. Frequency: 3/3. (PMID:38509369)
- 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:38509369)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 2/2. (PMID:38509369)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 3/3. (PMID:38509369)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:38509369)