- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 6/19. (PMID:25843314;PMID:22197273)
- Lymphoproliferative disorder (HP:0005523). Evidence: PCS. Frequency: 9/25. (PMID:25843314;PMID:22801960)
- EBV encephalitis (HP:0033509): Inflammation of the brain related to infection by Epstein-Barr virus. Evidence: PCS. Frequency: 1/7. (PMID:25843314)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:615122)
- 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: 15/29. (PMID:25843314;PMID:22197273)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: PCS. Frequency: 4/17. (PMID:25843314)
- EBV meningitis (HP:0033508): Inflammation of the meninges related to infection by Epstein-Barr virus. Evidence: PCS. Frequency: 1/17. (PMID:25843314)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:22197273)
- 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: 1/17. (PMID:25843314)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. Frequency: 5/25. (PMID:25843314;PMID:22801960)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: PCS. Frequency: 3/17. (PMID:25843314)
- Decreased mitogen-induced T-cell proliferation (HP:0031381): Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories. Evidence: PCS. (PMID:22197273)
- Aplastic anemia (HP:0001915): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: PCS. Frequency: 2/19. (PMID:25843314;PMID:22197273)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. (PMID:25843314)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/17. (PMID:25843314)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 10/19. (PMID:25843314;PMID:22197273)
- 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:22197273)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 6/19. (PMID:25843314;PMID:22197273)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 3/17. (PMID:25843314)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. Frequency: 4/17. (PMID:25843314)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 5/17. (PMID:25843314)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:22197273)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 1/17. (PMID:25843314)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: PCS. Frequency: 2/8. (PMID:22801960)
These phenotypes are associated with the disease lymphoproliferative syndrome 2 (OMIM:615122).