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

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

Genes related to Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 Deficiency

IRAK4

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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.

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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.

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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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