immunodeficiency 91 and hyperinflammation
Findings
No curated finding names immunodeficiency 91 and hyperinflammation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.
Definition from the Mondo Disease Ontology (MONDO:0030491), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Juvenile onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
39 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.
- Severe viral infectionHPOHP:0031691
- 15 of 15 reported patients
- HepatomegalyHPOHP:0002240
- 13 of 15 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 12 of 15 reported patients
- Increased total monocyte countHPOHP:0012311
- 3 of 4 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 10 of 15 reported patients
- Extrapulmonary tuberculosis
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.
- ZNFX1HGNC:29271
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 91 and hyperinflammation
- Also called
- IMD91immunodeficiency, autosomal recessive, due to ZNFX1 deficiency: