- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. (PMID:23129749)
- Decreased specific antibody response to unconjugated polysaccharide vaccine (HP:0410299): A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/2. (PMID:23129749)
- Lymphoid hyperplasia (HP:0034839): An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli. Evidence: PCS. Frequency: 1/1. (PMID:23129749)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:25352053)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:25352053)
- 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:25352053)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:25352053)
- 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. Onset: Infantile onset (HP:0003593). (PMID:25352053)
- 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: 4/4. (PMID:23129749)
These phenotypes are associated with the disease BENTA disease (OMIM:616452).