MCID: IRK001
MIFTS: 42

Irak4 Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Irak4 Deficiency

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Aliases & Descriptions for Irak4 Deficiency:

Name: Irak4 Deficiency 49 11 45 22 23 67 24 65
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 23 65
Irak-4 Deficiency 45 23
 
Irak4d 22 67
Interleukin Receptor-Associated Kinase Deficiency 45

Classifications:



External Ids:

OMIM49 607676
MedGen34 C1843256
UMLS65 C1843256, C3697183

Summaries for Irak4 Deficiency

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NIH Rare Diseases:45 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 based summary: Irak4 Deficiency, also known as interleukin-1 receptor-associated kinase 4 deficiency, is related to immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency and fibrosis of extraocular muscles, congenital, 1, and has symptoms including abnormality of neutrophils, abnormality of immune system physiology and abnormality of the lymphatic system. An important gene associated with Irak4 Deficiency is IRAK4 (Interleukin 1 Receptor Associated Kinase 4), and among its related pathways are NTHi-Induced Signaling and AGE/RAGE pathway. Affiliated tissues include neutrophil, and related mouse phenotypes are digestive/alimentary and adipose tissue.

Genetics Home Reference:23 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.

OMIM:49 IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see... (607676) more...

UniProtKB/Swiss-Prot:67 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Related Diseases for Irak4 Deficiency

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Diseases related to Irak4 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency11.6
2fibrosis of extraocular muscles, congenital, 110.4IRAK4, TIRAP
3lymph node cancer10.3TLR2, TLR4
4bartonellosis10.3TLR2, TLR4
5mycobacterium chelonae10.3TLR1, TLR2
6protein r deficiency10.3TLR2, TLR4
7methemoglobinemia10.3MYD88, TLR2
8brain germinoma10.3MYD88, TLR2
9exophthalmos10.3TLR2, TLR4
10monoclonal paraproteinemia10.3BTK, MYD88
11anti-hla hyperimmunization10.3TLR2, TLR4
12myelodysplastic syndrome10.2
13chronic myelomonocytic leukemia10.2
14leukemia10.2
15langerhans-cell histiocytosis10.2
16histiocytosis10.2
17basilar artery occlusion10.2MYD88, TLR4, TLR5
18angioid streaks of choroid10.2MYD88, TLR2, TLR4
19rumination disorder10.2TLR2, TLR4, TLR5
20hereditary hemorrhagic telangiectasia10.2
21keratosis10.2
22pseudomyxoma peritonei10.2
23actinic keratosis10.2
24periodic paralyses10.2
25breast columnar cell mucinous carcinoma10.2TLR2, TLR4, TLR5
26ileocolitis10.2TLR2, TLR4, TLR5
27carotenemia10.2MYD88, TLR2, TLR4
28lung cancer10.2
29arachnoiditis10.2
30kernicterus10.2
31neonatal adrenoleukodystrophy10.2TLR2, TLR4
32keratinizing squamous cell carcinoma10.1TLR2, TLR4, TLR5
33temporal arteritis10.1TLR2, TLR4
34blue toe syndrome10.1TIRAP, TLR4, TLR5
35auricular cancer10.1TLR2, TLR4
36foveal hypoplasia 110.1TLR10, TLR2, TLR4
37rin2 syndrome10.1CD14, TLR4
38social phobia10.1TLR2, TLR4
39common cold10.1MYD88, TLR2, TLR4, TLR5
40generalized anxiety disorder10.0IRAK4, MYD88
41fusariosis10.0TLR1, TLR6
42pyridoxine deficiency anemia9.9TLR4, TLR6
43atopy9.9CD14, TLR2, TLR4
44neutropenia chronic familial9.9TLR1, TLR2, TLR6
45vulva basal cell carcinoma9.9TLR1, TLR10, TLR6
46odontoclasia9.9TLR1, TLR2, TLR6
47enophthalmos9.9TLR1, TLR10, TLR6
48melioidosis9.8TLR1, TLR10, TLR2, TLR4, TLR5
49severe acute respiratory syndrome9.8TLR1, TLR4, TLR6
50vulvar melanoma9.7TLR1, TLR10, TLR2, TLR6

Graphical network of the top 20 diseases related to Irak4 Deficiency:



Diseases related to irak4 deficiency

Symptoms for Irak4 Deficiency

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Clinical features from OMIM:

607676

HPO human phenotypes related to Irak4 Deficiency:

id Description Frequency HPO Source Accession
1 abnormality of neutrophils hallmark (90%) HP:0001874
2 abnormality of immune system physiology hallmark (90%) HP:0010978
3 abnormality of the lymphatic system hallmark (90%) HP:0100763
4 immunodeficiency HP:0002721

Drugs & Therapeutics for Irak4 Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Irak4 Deficiency

Genetic Tests for Irak4 Deficiency

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Genetic tests related to Irak4 Deficiency:

id Genetic test Affiliating Genes
1 Irak4 Deficiency22 IRAK4

Anatomical Context for Irak4 Deficiency

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MalaCards organs/tissues related to Irak4 Deficiency:

33
Neutrophil

Animal Models for Irak4 Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Irak4 Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9BTK, CD36, MYD88, TLR2, TLR4, TLR5
2MP:00053758.5CD14, CD36, MYD88, TLR2, TLR4, TLR5
3MP:00053875.8BTK, CD14, CD36, IRAK4, LY96, MYD88
4MP:00053975.7BTK, CD14, CD36, IRAK4, LY96, MYD88

Publications for Irak4 Deficiency

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Articles related to Irak4 Deficiency:

idTitleAuthorsYear
1
The action of TNFalpha and TGFbeta include specific alterations of the glycosylation of bovine and human chondrocytes. (17079030)
2007

Variations for Irak4 Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Irak4 Deficiency:

67
id Symbol AA change Variation ID SNP ID
1IRAK4p.Arg12CysVAR_072888
2IRAK4p.Gly298AspVAR_072892

Clinvar genetic disease variations for Irak4 Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IRAK4NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys)single nucleotide variantPathogenicrs377584435GRCh37Chr 12, 44161948: 44161948
2IRAK4IRAK4, IVS7DS, G-T, +5single nucleotide variantPathogenic
3IRAK4IRAK4, 1-BP DEL, 821TdeletionPathogenic
4IRAK4NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter)single nucleotide variantPathogenicrs121908002GRCh37Chr 12, 44172041: 44172041
5IRAK4IRAK4, 2-BP DEL, 620ACdeletionPathogenic

Expression for genes affiliated with Irak4 Deficiency

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Search GEO for disease gene expression data for Irak4 Deficiency.

Pathways for genes affiliated with Irak4 Deficiency

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Pathways related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(show all 43)
idSuper pathwaysScoreTop Affiliating Genes
19.9MYD88, TLR2
29.6IRAK4, MYD88, TIRAP
39.0CD36, MYD88, TLR2, TLR4
49.0CD36, TLR2, TLR4, TLR5
59.0CD14, NDUFA2, TLR4
6
Show member pathways
8.8IRAK4, LY96, MYD88, TLR2, TLR4
78.8CD14, CD36, NDUFA2
88.8CD14, CD36, NDUFA2
98.7CD14, NDUFA2, TLR2, TLR4
108.5CD14, LY96, NDUFA2, TLR4
11
Show member pathways
8.5CD14, LY96, NDUFA2, TLR4
128.5CD14, LY96, NDUFA2, TLR4
13
Show member pathways
8.4CD14, LY96, NDUFA2, TLR4
14
Show member pathways
8.2CD14, LY96, MYD88, NDUFA2, TLR4
158.2CD14, LY96, MYD88, NDUFA2, TLR4
16
Show member pathways
8.2CD14, LY96, NDUFA2, TLR4, TLR5
17
Show member pathways
8.2BTK, CD14, LY96, NDUFA2, TLR4
188.1CD14, MYD88, NDUFA2, TLR2, TLR4, TLR5
19
Show member pathways
8.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
208.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
21
Show member pathways
8.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
22
Show member pathways
8.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
23
Show member pathways
8.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
248.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
258.0CD14, CD36, LY96, NDUFA2, TLR4
26
Show member pathways
7.6CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
277.6CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
28
Show member pathways
7.5IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
29
Show member pathways
7.5IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
307.3BTK, CD14, IRAK4, LY96, MYD88, NDUFA2
317.3CD14, CD36, NDUFA2, TLR2, TLR4, TLR6
32
Show member pathways
6.9BTK, IRAK4, MYD88, TIRAP, TLR1, TLR10
336.6CD14, IRAK4, MYD88, NDUFA2, TIRAP, TLR1
34
Show member pathways
6.1BTK, CD14, IRAK4, MYD88, NDUFA2, TLR1
35
Show member pathways
5.9CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
36
Show member pathways
5.9CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
37
Show member pathways
5.9CD14, CD36, IRAK4, LY96, MYD88, TIRAP
38
Show member pathways
5.3BTK, CD14, IRAK4, LY96, MYD88, NDUFA2
39
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
40
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
41
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
42
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
43
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88

GO Terms for genes affiliated with Irak4 Deficiency

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Cellular components related to Irak4 Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:00100089.1CD14, LY96, MYD88
2cell surfaceGO:00099868.9CD14, CD36, TLR2

Biological processes related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chemokine productionGO:003272210.5TLR2, TLR4
2positive regulation of interferon-beta productionGO:003272810.5TLR2, TLR4
3JNK cascadeGO:000725410.5IRAK4, MYD88
4positive regulation of nitric-oxide synthase biosynthetic processGO:005177010.5TLR2, TLR4
5I-kappaB phosphorylationGO:000725210.5TLR2, TLR4
6regulation of inflammatory responseGO:005072710.4MYD88, TLR4
7positive regulation of interleukin-8 productionGO:003275710.4TLR4, TLR5
8positive regulation of lymphocyte proliferationGO:005067110.4MYD88, TLR4
9detection of lipopolysaccharideGO:003249710.4LY96, TLR4
10positive regulation of macrophage cytokine productionGO:006090710.2CD36, TLR4
11detection of diacyl bacterial lipopeptideGO:004249610.1TLR2, TLR6
12regulation of cytokine secretionGO:005070710.0TLR4, TLR6
13T-helper 1 type immune responseGO:004208810.0TLR4, TLR6
14cellular response to mechanical stimulusGO:007126010.0MYD88, TLR4, TLR5
15positive regulation of I-kappaB kinase/NF-kappaB signalingGO:004312310.0IRAK4, TIRAP, TLR4
16negative regulation of growth of symbiont in hostGO:00441309.9CD36, MYD88, TIRAP
17response to bacteriumGO:00096179.9CD14, TLR4
18positive regulation of inflammatory responseGO:00507299.9TLR10, TLR2, TLR4
19positive regulation of interleukin-6 productionGO:00327559.7CD36, MYD88, TLR4
20cellular response to triacyl bacterial lipopeptideGO:00717279.7CD14, TLR1, TLR2
21positive regulation of tumor necrosis factor productionGO:00327609.7CD36, MYD88, TLR2, TLR4
22positive regulation of interleukin-6 biosynthetic processGO:00454109.6TIRAP, TLR1, TLR6
23defense response to Gram-positive bacteriumGO:00508309.6CD36, MYD88, TIRAP, TLR2
24negative regulation of MyD88-independent toll-like receptor signaling pathwayGO:00341289.5CD14, LY96, TLR4
25positive regulation of interleukin-12 productionGO:00327359.5CD36, TIRAP, TLR2, TLR4
26toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.5CD14, CD36, TLR2
27activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.5CD14, LY96, TLR4
28programmed cell deathGO:00125019.5CD14, LY96, TLR4
29extrinsic apoptotic signaling pathwayGO:00971919.4CD14, LY96, TLR4
30necroptotic processGO:00702669.4CD14, LY96, TLR4
31interleukin-1 beta secretionGO:00507029.3CD36, TLR4, TLR6
32cell surface receptor signaling pathwayGO:00071669.3CD14, CD36, LY96
33response to lipopolysaccharideGO:00324969.2CD14, LY96, MYD88
34I-kappaB kinase/NF-kappaB signalingGO:00072499.2BTK, CD14, LY96, TLR4
35cellular response to lipoteichoic acidGO:00712239.1CD14, CD36, TLR2, TLR4
36TRIF-dependent toll-like receptor signaling pathwayGO:00356669.0CD14, LY96, TLR4
37lipopolysaccharide-mediated signaling pathwayGO:00316638.9CD14, LY96, MYD88, TLR2, TLR4
38inflammatory responseGO:00069548.8MYD88, TLR1, TLR10, TLR5, TLR6
39defense response to bacteriumGO:00427428.8TLR1, TLR4, TLR5, TLR6
40immune responseGO:00069558.7CD36, TLR2, TLR4, TLR6
41cellular response to diacyl bacterial lipopeptideGO:00717268.7CD14, CD36, TLR2, TLR6
42cellular response to lipopolysaccharideGO:00712228.5CD14, CD36, LY96, TLR4, TLR5
43toll-like receptor TLR1:TLR2 signaling pathwayGO:00381238.0CD14, CD36, LY96, MYD88, TIRAP, TLR2
44toll-like receptor 2 signaling pathwayGO:00341348.0BTK, CD14, CD36, IRAK4, LY96, MYD88
45toll-like receptor 4 signaling pathwayGO:00341427.6CD36, LY96, MYD88, TIRAP, TLR1, TLR2
46toll-like receptor signaling pathwayGO:00022247.2CD14, IRAK4, LY96, MYD88, TLR1, TLR10
47signal transductionGO:00071657.1MYD88, TIRAP, TLR1, TLR10, TLR2, TLR4
48innate immune responseGO:00450876.4BTK, CD14, CD36, IRAK4, LY96, MYD88
49MyD88-dependent toll-like receptor signaling pathwayGO:00027556.3BTK, CD14, CD36, IRAK4, LY96, MYD88

Sources for Irak4 Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet