IRAK4D
MCID: IRK001
MIFTS: 51
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Irak4 Deficiency (IRAK4D)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Irak4 Deficiency:
Characteristics:Orphanet epidemiological data:58
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age; Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Neuronal diseases Immune diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.
Streptococcus pneumoniae
Staphylococcus aureus
Pseudomonas aeruginosa
Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.
MalaCards based summary : Irak4 Deficiency, also known as immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency, is related to hyper ige syndrome and peritonitis. An important gene associated with Irak4 Deficiency is IRAK4 (Interleukin 1 Receptor Associated Kinase 4), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are immunodeficiency and neutropenia NIH Rare Diseases : 52 IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency ). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae . The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment may include intravenous immunoglobulin therapy (IVIG), taking antibiotics before an infection develops, and vaccines. Althought the infections can be life-threatening, they tend to occur less often as a person gets older. OMIM : 56 IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see IL1R1; 147810) immunity, except for the TLR3 (603029)- and TLR4-interferon-alpha (IFNA; 147660)/beta (IFNB; 147640) pathways (Ku et al., 2007). (607676) UniProtKB/Swiss-Prot : 73 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children. Wikipedia : 74 IRAK-4 (interleukin-1 receptor-associated kinase 4), in the IRAK family, is a protein kinase involved in... more... |
Human phenotypes related to Irak4 Deficiency:58 31
MGI Mouse Phenotypes related to Irak4 Deficiency:45
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Interventional clinical trials:
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MalaCards organs/tissues related to Irak4 Deficiency:40
Eye,
Brain,
Spinal Cord,
Skin,
T Cells,
Neutrophil,
Myeloid
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Articles related to Irak4 Deficiency:(show all 22)
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ClinVar genetic disease variations for Irak4 Deficiency:6 (show top 50) (show all 121)
UniProtKB/Swiss-Prot genetic disease variations for Irak4 Deficiency:73
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Search
GEO
for disease gene expression data for Irak4 Deficiency.
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Pathways related to Irak4 Deficiency according to GeneCards Suite gene sharing:(show all 49)
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Cellular components related to Irak4 Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Irak4 Deficiency according to GeneCards Suite gene sharing:(show top 50) (show all 77)
Molecular functions related to Irak4 Deficiency according to GeneCards Suite gene sharing:(show all 14)
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