LAT gene related symptoms and diseases
All the information presented here about the LAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LAT gene
Symptoms // Phenotype | % Cases |
---|---|
Failure to thrive | Very Common - Between 80% and 100% cases |
Recurrent urinary tract infections | Very Common - Between 80% and 100% cases |
Chronic lung disease | Very Common - Between 80% and 100% cases |
Severe combined immunodeficiency | Very Common - Between 80% and 100% cases |
Autoimmune hemolytic anemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LAT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased antibody level in blood
- Combined immunodeficiency
- Cerebral palsy
- Leukoencephalopathy
- Recurrent pneumonia
- Lymphopenia
- Bronchiectasis
- Abnormal lung morphology
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LAT gene
Here you will find a list of rare diseases related to the LAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY
Alternate names
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency
Description
IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).
Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY
- Failure to thrive
- Anemia
- Splenomegaly
- Immunodeficiency
- Recurrent infections
More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY
Search interest in LAT
Potential gene panels for LAT gene
LAT Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LAT gene.
More info about this panelPrimary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelSevere Combined Immunodeficiency Panel Panel
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
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 ERCC3 DRD3 EGFR CCM2 TBXT SNORD118 DYNC2H1