immunodeficiency 91 and hyperinflammation
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.
Also known as: IMD91, immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:.
Category: General
Symptoms associated with immunodeficiency 91 and hyperinflammation
The following symptoms have been associated with immunodeficiency 91 and hyperinflammation in medical literature. Not everyone experiences the same symptoms.
Edema
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Intermittent diarrhea
Repeated episodes of diarrhea separated by periods without diarrhea....
Persistent fever
Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the...
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate immunodeficiency 91 and hyperinflammation
Healthcare providers may order these tests when evaluating immunodeficiency 91 and hyperinflammation. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with immunodeficiency 91 and hyperinflammation, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic acidemia is a medical condition that may be associated with various symptom...
Omenn syndrome
An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to ...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
familial hemophagocytic lymphohistiocytosis 2
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gen...
Frequently Asked Questions
What is immunodeficiency 91 and hyperinflammation?
immunodeficiency 91 and hyperinflammation is a health condition described in medical literature. 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.
What are the symptoms of immunodeficiency 91 and hyperinflammation?
immunodeficiency 91 and hyperinflammation is associated with 7 symptoms in the medical literature we index, including Edema, Failure to thrive, Focal impaired awareness seizure, Intermittent diarrhea, Persistent fever, Recurrent fever. Symptoms vary widely between individuals.
How is immunodeficiency 91 and hyperinflammation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with immunodeficiency 91 and hyperinflammation include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have immunodeficiency 91 and hyperinflammation, please discuss your symptoms with a qualified healthcare provider.