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.

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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


More info about IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY

SOURCES: MESH OMIM ORPHANET

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


More info about INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1

SOURCES: MESH OMIM


Potential gene panels for IRAK4 gene

IRAK4 Sequencing Panel

United States.

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 panel

IRAK4 Deletion/duplication analysis Panel

United States.

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 panel

IRAK4 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the IRAK4 gene.

More info about this panel

Increased risk for infection with Gram-positive bacteria (c.1282G>A SNP on IRAK4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IRAK4 gene.

More info about this panel

Primary immunodeficiency due to IRAK4 deficiency (sequence analysis of IRAK4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IRAK4 gene.

More info about this panel

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Panel

Portugal.

By CGC Genetics

This panel specifically test the IRAK4 gene.

More info about this panel

Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IRAK4 gene.

More info about this panel

IRAK4 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IRAK4 gene.

More info about this panel

Invasive pneumococcal disease, recurrent isolated type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IRAK4 gene.

More info about this panel

Defects in innate immunity Panel Panel

Germany.

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 panel

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel

United States.

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 panel

Invitae Primary Immunodeficiency Panel Panel

United States.

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 panel

IRAK4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IRAK4 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

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 panel

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

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 panel


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