- Decreased neutrophil oxidative burst (HP:0003203): 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: 1/1. (PMID:10758162)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 1/1. (PMID:10758162)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:10758162)
- Reduction of neutrophil motility (HP:0005400): An abnormal reduction of the cell motility of neutrophils. Evidence: PCS. Frequency: 1/1. (PMID:10758162)
- Urachal cyst (HP:0012618): A cyst located along the allantois canal. Evidence: PCS. Frequency: 1/1. (PMID:10758162)
- Delayed umbilical cord separation (HP:0032434): Separation of the umbilical cord occurs at an abnormally late timepoint. Evidence: PCS. Frequency: 1/1. (PMID:10758162)
- Neonatal omphalitis (HP:0032435): An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:21167572)
- Abnormally low T cell receptor excision circle level (HP:0031545): Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:21167572)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:10758162)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:21167572)
- Impaired neutrophil chemotaxis (HP:0040238): An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response. Evidence: PCS. Frequency: 2/2. (PMID:21167572;PMID:10758162)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:21167572)
- 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:10758162)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:21167572)
These phenotypes are associated with the disease neutrophil immunodeficiency syndrome (OMIM:608203).