primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Findings
No curated finding names primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.
Definition from the Mondo Disease Ontology (MONDO:0012383), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Adrenal insufficiencyHPOHP:0000846
- 6 of 6 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 6 of 6 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 6 of 6 reported patients
- Reduced total natural killer cell countHPOHP:0040218
- 6 of 6 reported patients
- Caesarean sectionHPOHP:0011410
- 5 of 6 reported patients
- Mild global developmental delayHPO
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.
- MCM4HGNC:6947
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- Also called
- mini-chromosome maintenance 4primary immunodeficiency due to MCM4 deficiency