Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 Deficiency

  • Neoplasm
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Neutropenia
  • Sepsis
  • Recurrent bacterial infections
  • Osteomyelitis
  • Cellulitis
  • Recurrent streptococcus pneumoniae infections

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 Deficiency Is also known as irak4d, irak4 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IRAK4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

IRAK4
Specificity
100 %
Genes
100 %
IRAK4 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

IRAK4
Specificity
100 %
Genes
100 %
IRAK4 Gene Sequencing.

By GeneDx (United States).

IRAK4
Specificity
100 %
Genes
100 %
Increased risk for infection with Gram-positive bacteria (c.1282G>A SNP on IRAK4 gene).

By CGC Genetics (Portugal).

IRAK4
Specificity
100 %
Genes
100 %
Primary immunodeficiency due to IRAK4 deficiency (sequence analysis of IRAK4 gene).

By CGC Genetics (Portugal).

IRAK4
Specificity
100 %
Genes
100 %
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency.

By CGC Genetics (Portugal).

IRAK4
Specificity
100 %
Genes
100 %
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

IRAK4
Specificity
100 %
Genes
100 %
IRAK4 deficiency.

By Centogene AG - the Rare Disease Company (Germany).

IRAK4
Specificity
100 %
Genes
100 %

We have 7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT MYOFIBROMATOSIS, INFANTILE, 2; IMF2 RETINAL CONE DYSTROPHY 3B; RCD3B SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more