Phenotypes associated with the disease autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (OMIM:615707):
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:8874200)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:8608639)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: PCS. Frequency: 1/1. (PMID:8874200)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/1. (PMID:8608639)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: PCS. Frequency: 1/1. (PMID:8874200)
- Abnormal natural killer cell physiology (HP:0012177): Abnormal response of natural killer (NK) cells to stimuli. Evidence: PCS. Frequency: 1/1. (PMID:8608639)
- Recurrent viral upper respiratory tract infections (HP:0033166): An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 1/1. (PMID:8874200)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:8608639)
- 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:8608639)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. (OMIM:615707)
- Recurrent oral herpes (HP:0410028): Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. Evidence: PCS. Frequency: 1/1. (PMID:8608639)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:8608639)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:8608639;PMID:8874200)