Phenotypes associated with the disease immunodeficiency 86 (OMIM:619549, an entry in Online Mendelian Inheritance in Man):
- Decreased neutrophil oxidative burst (HP:0003203, a Human Phenotype Ontology term): Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. Evidence: PCS. Frequency: 0/1. (PMID:30127434)
- BCGitis (HP:0020086, a Human Phenotype Ontology term): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 3/3. (PMID:30127434)
- Increased circulating IgM concentration (HP:0003496, a Human Phenotype Ontology term): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 2/3. (PMID:30127434)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:30127434)
- Decreased circulating IgG concentration (HP:0004315, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 3/3. (PMID:30127434)