MCID: IRK002
MIFTS: 27

Irak-4 Deficiency malady

Blood, Immune categories

Summaries for Irak-4 Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 9/20/2013

MalaCards: Irak-4 Deficiency, also known as irak4 deficiency, is related to allergic rhinitis and bronchiolitis, and has symptoms including anomalies of the lymphatic system, immunodeficiency/increased susceptibility to infections/recurrent infections and polynuclear cells/neutrophils anomalies/neutropenia. An important gene associated with Irak-4 Deficiency is IRAK4 (interleukin-1 receptor-associated kinase 4), and among its related pathways are AGE/RAGE pathway and Interleukin-1 signaling. The compounds serine and endotoxin have been mentioned in the context of this disorder. Related mouse phenotypes are immune system and hematopoietic system.

Genetics Home Reference:21 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.

Description from OMIM:47 607676

Aliases & Classifications for Irak-4 Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood, Immune


Characteristics (Orphanet epidemiological data):

49
irak4 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

irak-4 deficiency 43 21
irak4 deficiency 43 20 22 21 47 49 61
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 49
interleukin receptor-associated kinase deficiency 43


External Ids:

OMIM47 607676
ICD10 via Orphanet26 D84.8

Related Diseases for Irak-4 Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Irak-4 Deficiency:



Diseases related to irak-4 deficiency

Clinical Features for Irak-4 Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

607676

Symptoms:

49
  • anomalies of the lymphatic system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polynuclear cells/neutrophils anomalies/neutropenia

Drugs & Therapeutics for Irak-4 Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Irak-4 Deficiency

Drug clinical trials:

Search ClinicalTrials for Irak-4 Deficiency

Search NIH Clinical Center for Irak-4 Deficiency

Search CenterWatch for Irak-4 Deficiency

Genetic Tests for Irak-4 Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Irak-4 Deficiency:

id Genetic test Affiliating Genes
1 Irak4 Deficiency20 22 IRAK4

Anatomical Context for Irak-4 Deficiency

Animal Models for Irak-4 Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Irak-4 Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0IL8, MYD88, IRAK4, TLR9
2MP:00053977.7IL8, MYD88, IRAK4, TLR9

Publications for Irak-4 Deficiency

Genetic Variations for Irak-4 Deficiency

Expression for genes affiliated with Irak-4 Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Irak-4 Deficiency

Search GEO for disease gene expression data for Irak-4 Deficiency.

Pathways for genes affiliated with Irak-4 Deficiency

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG, 56SinoBiological, 12EMD Millipore, 4Cell Signaling Technology, 53R&D Systems
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Pathways related to Irak-4 Deficiency according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IRAK4, MYD88
2
Hide members
9.3IRAK4, MYD88
3
Mucin expression in CF via IL-6, IL-17 signaling pathways
9.3IRAK4, MYD88
4
Hide members
9.3MYD88, IRAK4
5
Hide members
9.3IRAK4, MYD88
6
Hide members
9.3MYD88, IRAK4
7
Cytokine production by Th17 cells in CF (Mouse model)
9.3MYD88, IL8
89.3MYD88, IL8
99.3MYD88, IL8
10
Hide members
9.1IRAK4, TLR9
119.0MYD88, TLR9
12
Hide members
8.8IL8, MYD88, IRAK4
138.8MYD88, IRAK4, IL8
14
Immune response Bacterial infections in normal airways
Hide members
8.8IRAK4, MYD88, IL8
158.8MYD88, IL8, IRAK4
16
Hide members
8.5MYD88, IRAK4, TLR9
178.5MYD88, IRAK4, TLR9
188.5MYD88, IRAK4, TLR9
19
Hide members
8.5MYD88, IRAK4, TLR9
20
Hide members
8.5TLR9, IRAK4, MYD88
21
Hide members
8.5TLR9, MYD88, IRAK4
22
Hide members
8.5TLR9, IRAK4, MYD88
23
Hide members
8.5MYD88, IRAK4, TLR9
248.5TLR9, MYD88, IL8
25
Hide members
8.0IL8, MYD88, TLR9, IRAK4
26
Hide members
8.0IRAK4, IL8, MYD88, TLR9
27
Hide members
8.0TLR9, IL8, IRAK4, MYD88
288.0TLR9, IRAK4, MYD88, IL8
29
Hide members
8.0TLR9, IRAK4, IL8, MYD88

Compounds for genes affiliated with Irak-4 Deficiency

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Irak-4 Deficiency according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1serine4510.1IL8
2endotoxin4510.0MYD88
3monosodium urate459.5MYD88, IL8
4polyinosinic-polycytidylic acid459.2TLR9, IL8
5poly(i-c)459.1TLR9, IL8
6ccl345 2910.0TLR9, IL8
7oxygen45 249.8IRAK4, MYD88, IL8
8flagellin45 299.7TLR9, MYD88, IL8
9lipoteichoic acid458.7TLR9, MYD88, IL8
10peptidoglycan45 299.7TLR9, MYD88, IL8
11nitric oxide45 11 2410.2MYD88, IL8, TLR9

GO Terms for genes affiliated with Irak-4 Deficiency

Sources:
16Gene Ontology
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Cellular components related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:0100088.5MYD88, IRAK4, TLR9

Biological processes related to Irak-4 Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1toll-like receptor 10 signaling pathwayGO:0341669.5MYD88, IRAK4
2toll-like receptor 5 signaling pathwayGO:0341469.5MYD88, IRAK4
3toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.4MYD88, IRAK4
4toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.4MYD88, IRAK4
5response to molecule of bacterial originGO:0022379.4TLR9, IL8
6positive regulation of interleukin-6 productionGO:0327559.2TLR9, MYD88
7toll-like receptor 2 signaling pathwayGO:0341349.2IRAK4, MYD88
8toll-like receptor 4 signaling pathwayGO:0341429.0MYD88, IRAK4
9positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.0MYD88, TLR9
10toll-like receptor 9 signaling pathwayGO:0341628.8IRAK4, MYD88, TLR9
11MyD88-dependent toll-like receptor signaling pathwayGO:0027558.8TLR9, MYD88, IRAK4
12toll-like receptor signaling pathwayGO:0022248.8MYD88, IRAK4, TLR9
13inflammatory responseGO:0069548.7TLR9, MYD88, IL8
14innate immune responseGO:0450878.5MYD88, IRAK4, TLR9

Molecular functions related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:0051499.1IRAK4, TLR9

Products for genes affiliated with Irak-4 Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Irak-4 Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet