IRAK4 gene related symptoms and diseases
All the information presented here about the IRAK4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRAK4 gene
Symptoms // Phenotype | % Cases |
---|---|
Recurrent streptococcus pneumoniae infections | Very Common - Between 80% and 100% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Immunodeficiency | Uncommon - Between 30% and 50% cases |
Recurrent infections | Uncommon - Between 30% and 50% cases |
Pneumonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IRAK4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neutropenia
- Sepsis
- Recurrent bacterial infections
- Osteomyelitis
- Cellulitis
- Recurrent staphylococcal infections
- Headache
- Arthritis
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IRAK4 gene
Here you will find a list of rare diseases related to the IRAK4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY Is also known as irak4d, irak4 deficiency
Description
Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
Most common symptoms of IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY
- Neoplasm
- Immunodeficiency
- Recurrent infections
- Pneumonia
- Neutropenia
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
Description
Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.
Most common symptoms of INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
- Headache
- Arthritis
- Meningitis
- Recurrent streptococcus pneumoniae infections
Search interest in IRAK4
Potential gene panels for IRAK4 gene
IRAK4 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the IRAK4 gene.
More info about this panelIRAK4 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the IRAK4 gene.
More info about this panelIRAK4 Gene Sequencing Panel
By GeneDx
This panel specifically test the IRAK4 gene.
More info about this panelIncreased risk for infection with Gram-positive bacteria (c.1282G>A SNP on IRAK4 gene) Panel
By CGC Genetics
This panel specifically test the IRAK4 gene.
More info about this panelPrimary immunodeficiency due to IRAK4 deficiency (sequence analysis of IRAK4 gene) Panel
By CGC Genetics
This panel specifically test the IRAK4 gene.
More info about this panelImmunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Panel
By CGC Genetics
This panel specifically test the IRAK4 gene.
More info about this panelPrimary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the IRAK4 gene.
More info about this panelIRAK4 deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IRAK4 gene.
More info about this panelInvasive pneumococcal disease, recurrent isolated type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IRAK4 gene.
More info about this panelDefects in innate immunity Panel Panel
By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4
More info about this panelInvitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2
More info about this panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelIRAK4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IRAK4 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 panelCEN4GEN Breast cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16
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 CTH MAP3K20-AS1 TRHR CNTN1 CCDC88C ANKRD1 HYDIN