Phenotypes associated with the disease immunodeficiency 84 (OMIM:619437):
- 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: 1/3. (PMID:34155405)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 2/3. (PMID:34155405)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: PCS. Frequency: 2/3. Onset: Young adult onset (HP:0011462). (PMID:34155405)
- Perianal abscess (HP:0009789): The presence of an abscess located around the anus. Evidence: PCS. Frequency: 1/3. Onset: Childhood onset (HP:0011463). (PMID:34155405)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 3/3. (PMID:34155405)
- 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:34155405)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/3. Onset: Adult onset (HP:0003581). (PMID:34155405)