Phenotypes associated with the disease agammaglobulinemia 10, autosomal dominant (OMIM:619707):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. Frequency: 1/6. (PMID:33951726)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:33951726)
- Transiently decreased total neutrophil count (HP:0410255): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for less than 3 months and then spontaneously recovers, but does not recur cyclically. Evidence: PCS. Frequency: 1/6. (PMID:33951726)
- Agammaglobulinemia (HP:0004432): A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- Absent circulating B cells (HP:0030252): Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 1/6. Onset: Childhood onset (HP:0011463). (PMID:33951726)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- 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:33951726)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 6/6. (PMID:33951726)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. (PMID:33951726)