HLA-DQB2 gene related symptoms and diseases
All the information presented here about the HLA-DQB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HLA-DQB2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Respiratory distress | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Immunodeficiency | Very Common - Between 80% and 100% cases |
Hepatosplenomegaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HLA-DQB2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Skin rash
- Shock
- Encephalitis
- Recurrent mycobacterial infections
- Herpes simplex encephalitis
Rare diseases associated to HLA-DQB2 gene
Here you will find a list of rare diseases related to the HLA-DQB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Alternate names
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency
Description
Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Most common symptoms of SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
- Seizures
- Respiratory distress
- Blindness
- Immunodeficiency
- Hepatosplenomegaly
More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Search interest in HLA-DQB2
Potential gene panels for HLA-DQB2 gene
HLA-DQB2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HLA-DQB2 gene.
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BARD1 PAX3 ENO3 ABCA12 ARMC9 TBXT CFAP410