- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Vitiligo (HP:0001045). Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Absent specific antibody response (HP:0005424): Inability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Decreased class-switched memory B cell proportion (HP:0030388): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- 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:32484799)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Decreased regulatory T cell proportion (HP:0020113): Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:32484799)
These phenotypes are associated with the disease immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias (OMIM:619846).