autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
MONDO:0014313Mondo
Findings
No curated finding names autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- BCGitisHPOHP:0020086
- 1 of 1 reported patient
- Recurrent oral herpesHPOHP:0410028
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 1 of 1 reported patient
- Recurrent viral upper respiratory tract infectionsHPOHP:0033166
- 1 of 1 reported patient
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 1 reported patient
- WheezingHPOHP:0030828
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 2 reported patients
- ImmunodeficiencyHPOHP:0002721
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FCGR3AHGNC:3619
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- Also called
- autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicityCD16 deficiencyimmunodeficiency type 20