Phenotypes associated with the disease WHIM syndrome 2 (OMIM:619407):
- Myelokathexis (HP:0031160): Impaired egress of mature neutrophils from bone marrow causing neutropenia. Evidence: PCS. Frequency: 3/6. (PMID:34854278;PMID:24777453)
- Recurrent gingivitis (HP:0034284): Increased susceptibility to gingivitis, as manifested by recurrent or chronic episodes of infections or inflammations of the gums (gingival tissue) that are unusual in frequency or severity for a healthy individual of the same age. Evidence: PCS. Frequency: 4/4. (PMID:34854278)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:34854278)
- Persistently decreased total neutrophil count (HP:0410252): 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 3 or more months. Evidence: PCS. Frequency: 6/6. (PMID:34854278;PMID:24777453)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 0/4. (PMID:34854278)
- 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:24777453)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: PCS. Frequency: 2/4. (PMID:34854278)