Phenotypes associated with the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (OMIM:300853):
- 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: 7/7. (PMID:24550228;PMID:25956530;PMID:25504528)
- Decreased CD69 upregulation upon TCR activation (HP:0031268): Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Evidence: PCS. Frequency: 2/2. (PMID:21796205)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ 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: 3/3. (PMID:25956530;PMID:21796205)
- 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:25956530)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/2. (PMID:25504528)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: PCS. Frequency: 4/4. Onset: Young adult onset (HP:0011462). (PMID:24550228)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/1. (PMID:25956530)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 1/1. (PMID:25956530)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 4/4. (PMID:24550228)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:25504528)
- Lymphoproliferative disorder (HP:0005523). Evidence: PCS. Frequency: 2/2. (PMID:25504528)
- 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:25504528)
- Persistent CMV viremia (HP:0032247): Persistent or recurrent detection of cytomegalovirus (CMV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 1/1. (PMID:25956530)
- Chronic active EBV infection (HP:0032204): Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. Evidence: PCS. Frequency: 2/2. (PMID:21796205)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 3/3. (PMID:25956530;PMID:21796205)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: PCS. Frequency: 1/4. (PMID:24550228)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: PCS. Frequency: 1/1. (PMID:25956530)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:21796205)
- Inverted CD4:CD8 ratio (HP:0033222): CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. Evidence: PCS. Frequency: 4/4. (PMID:21796205;PMID:25504528)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: IEA. Frequency: 2/2. (PMID:21796205)
- Decreased specific anti-polysaccharide antibody concentration (HP:0002848): The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. Evidence: PCS. (PMID:25504528)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. (PMID:21796205)
- Decreased T cell activation (HP:0005419): Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. Evidence: PCS. (PMID:21796205)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/2. (PMID:25504528)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 1/1. (PMID:25956530)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: PCS. (PMID:21796205)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:21796205)