MCID: IRK001
MIFTS: 39

Irak4 Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Irak4 Deficiency

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Aliases & Descriptions for Irak4 Deficiency:

Name: Irak4 Deficiency 49 11 45 22 23 24 65 67
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

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 pericarditis and pleural empyema, 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 . 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1pericarditis10.4
2pleural empyema10.4
3invasive pneumococcal disease, recurrent isolated, 110.2IRAK4, TIRAP
4oculo cerebro acral syndrome10.2TLR1, TLR5
5immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency10.2
6acute conjunctivitis10.2TLR2, TLR4
7tumor of exocrine pancreas10.2MYD88, TLR2
8corneal granular dystrophy10.2TLR2, TLR4
9protein r deficiency10.2TLR2, TLR4
10agel amyloidosis10.2TLR2, TLR4
11hyper ige syndrome10.2
12periocular meningioma10.2TLR2, TLR4
13intermediate malignant teratoma10.2MYD88, TLR2
14mycobacterium chelonae10.2TLR1, TLR2
15anti-hla hyperimmunization10.2TLR2, TLR4
16uveoparotid fever10.1MYD88, TLR4, TLR5
17hyper-reninism10.1TLR2, TLR4
18radiation cystitis10.1MYD88, TLR2, TLR4
19supraglottis cancer10.1TLR2, TLR4, TLR5
20blastomycosis10.1MYD88, TLR2, TLR4
21diversion colitis10.1TLR2, TLR4, TLR5
22mycobacterium fortuitum10.1CD14, TLR2
23transient arthritis10.1MYD88, TLR2, TLR4
24mycobacterium malmoense10.1CD14, TLR2
25focal chorioretinitis10.1TLR1, TLR2, TLR4
26pneumothorax10.1TLR2, TLR4, TLR5
27narcissistic personality disorder10.1TIRAP, TLR4, TLR5
28chronic polyneuropathy10.1TLR2, TLR4
29metagonimiasis10.1TLR2, TLR4
30neonatal adrenoleukodystrophy10.0TLR2, TLR4
31leiomyoma10.0MYD88, TLR2, TLR4, TLR5
32migraine with aura10.0TLR2, TLR4
33atopy9.9CD14, TLR2, TLR4
34neutropenia chronic familial9.9TLR1, TLR2, TLR6
35discrete subaortic stenosis9.9TLR1, TLR6
36bartholin's gland adenosquamous carcinoma9.9TLR1, TLR10, TLR6
37emery-dreifuss muscular dystrophy9.9TLR1, TLR2, TLR6
38common wart9.9TLR1, TLR10, TLR6
39transient cerebral ischemia9.8TLR1, TLR10, TLR2, TLR6
40periarthritis9.8TLR1, TLR10, TLR2, TLR6
41adiaspiromycosis9.8TLR1, TLR2, TLR4, TLR6
42melioidosis9.7LY96, TLR1, TLR10, TLR2, TLR4, TLR5
43pelvic varices9.6TIRAP, TLR1, TLR2, TLR4, TLR6
44tularemia9.5MYD88, TIRAP, TLR1, TLR2, TLR4, TLR6
45malaria9.3CD36, MYD88, TIRAP, TLR1, TLR2, TLR4
46myelocerebellar disorder8.4BTK, CD14, CD36, IRAK4, LY96, MYD88
47irak4 deficiency8.2BTK, CD14, CD36, IRAK4, LY96, MYD88

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 24 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:00053818.7BTK, CD36, MYD88, TLR2, TLR4, TLR5
2MP:00053758.4CD14, CD36, MYD88, TLR2, TLR4, TLR5
3MP:00053767.1BTK, CD14, CD36, IRAK4, MYD88, TIRAP
4MP:00053975.6BTK, CD14, CD36, IRAK4, LY96, MYD88
5MP:00053875.3BTK, CD14, CD36, IRAK4, LY96, MYD88

Publications for Irak4 Deficiency

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Articles related to Irak4 Deficiency:

idTitleAuthorsYear
1
Recurrent systemic pneumococcal disease and IRAK4 deficiency. (17984826)
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 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MYD88, TLR2
2
Apoptosis (KEGG)
Show member pathways
9.6MYD88, TLR2
39.6IRAK4, MYD88, TIRAP
49.0CD36, MYD88, TLR2, TLR4
59.0CD14, NDUFA2, TLR4
6
Show member pathways
8.8IRAK4, LY96, MYD88, TLR2, TLR4
78.8CD14, CD36, NDUFA2
88.7CD14, NDUFA2, TLR2, TLR4
98.5CD14, LY96, NDUFA2, TLR4
108.5CD14, LY96, NDUFA2, TLR4
11
Show member pathways
8.5CD14, LY96, NDUFA2, TLR4
12
Salmonella infection (KEGG)
Show member pathways
8.4CD14, LY96, NDUFA2, TLR4
138.2CD14, LY96, MYD88, NDUFA2, TLR4
14
Show member pathways
8.2CD14, LY96, MYD88, NDUFA2, TLR4
15
Show member pathways
8.2CD14, LY96, NDUFA2, TLR4, TLR5
16
Show member pathways
8.2BTK, CD14, LY96, NDUFA2, TLR4
178.1CD14, MYD88, NDUFA2, TLR2, TLR4, TLR5
188.0TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
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
238.0CD14, CD36, LY96, NDUFA2, TLR4
247.9BTK, IRAK4, MYD88, TLR1, TLR2, TLR4
25
Show member pathways
7.6CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
267.6CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
27
Show member pathways
7.5IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
28
TNF Signaling (sino)
Show member pathways
7.5IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
297.3BTK, CD14, IRAK4, LY96, MYD88, NDUFA2
307.3CD14, CD36, NDUFA2, TLR2, TLR4, TLR6
31
Show member pathways
6.9BTK, IRAK4, MYD88, TIRAP, TLR1, TLR10
326.6CD14, IRAK4, MYD88, NDUFA2, TIRAP, TLR1
33
Show member pathways
6.1BTK, CD14, IRAK4, MYD88, NDUFA2, TLR1
34
Show member pathways
5.9CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
35
Show member pathways
5.9CD14, IRAK4, LY96, MYD88, NDUFA2, TIRAP
36
Show member pathways
5.3BTK, CD14, IRAK4, LY96, MYD88, NDUFA2
37
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
38
Show member pathways
4.7BTK, CD14, CD36, IRAK4, LY96, MYD88
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

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
1Toll-like receptor 1-Toll-like receptor 2 protein complexGO:003535410.5TLR1, TLR2
2Toll-like receptor 2-Toll-like receptor 6 protein complexGO:003535510.1TLR2, TLR6
3intrinsic component of plasma membraneGO:00312269.8LY96, TLR2, TLR4
4lipopolysaccharide receptor complexGO:00466969.7CD14, LY96, TLR4
5external side of plasma membraneGO:00098979.1CD14, CD36, TLR2, TLR4
6endosome membraneGO:00100089.0CD14, IRAK4, LY96, MYD88, TLR4
7plasma membraneGO:00058865.3BTK, CD14, CD36, IRAK4, LY96, MYD88

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

(show top 50)    (show all 64)
idNameGO IDScoreTop Affiliating Genes
1response to molecule of fungal originGO:000223810.7MYD88, TLR2
2positive regulation of toll-like receptor signaling pathwayGO:003412310.6TLR2, TLR5
3response to peptidoglycanGO:003249410.6MYD88, TLR2
4positive regulation of lymphocyte proliferationGO:005067110.5MYD88, TLR4
5detection of triacyl bacterial lipopeptideGO:004249510.5TLR1, TLR2
6cellular response to triacyl bacterial lipopeptideGO:007172710.5TLR1, TLR2
7regulation of dendritic cell cytokine productionGO:000273010.5TLR2, TLR4
8macrophage activationGO:004211610.4TLR1, TLR4
9detection of lipopolysaccharideGO:003249710.3LY96, TLR4
10positive regulation of tumor necrosis factor biosynthetic processGO:004253510.1TLR1, TLR2, TLR4
11detection of diacyl bacterial lipopeptideGO:004249610.1TLR2, TLR6
12cellular response to diacyl bacterial lipopeptideGO:007172610.1TLR2, TLR6
13cellular response to mechanical stimulusGO:007126010.0MYD88, TLR4, TLR5
14positive regulation of inflammatory responseGO:005072910.0TLR10, TLR2, TLR4
15positive regulation of nitric oxide biosynthetic processGO:00454299.9TLR2, TLR4, TLR5
16positive regulation of macrophage cytokine productionGO:00609079.9CD36, TLR2, TLR4
17cellular response to bacterial lipopeptideGO:00712219.8CD36, TIRAP, TLR2
18positive regulation of JNK cascadeGO:00463309.8MYD88, TIRAP, TLR4
19positive regulation of interleukin-8 productionGO:00327579.7TIRAP, TLR2, TLR4, TLR5
20lipopolysaccharide-mediated signaling pathwayGO:00316639.7LY96, MYD88, TLR2, TLR4
21activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.7CD14, LY96, TLR4
22extrinsic apoptotic signaling pathwayGO:00971919.7CD14, LY96, TLR4
23toll-like receptor 5 signaling pathwayGO:00341469.6IRAK4, MYD88, TLR10, TLR5
24toll-like receptor 10 signaling pathwayGO:00341669.6IRAK4, MYD88, TLR10, TLR5
25response to bacteriumGO:00096179.6CD14, TLR2, TLR4
26positive regulation of interleukin-6 biosynthetic processGO:00454109.6TIRAP, TLR1, TLR6
27negative regulation of growth of symbiont in hostGO:00441309.5CD36, MYD88, TIRAP, TLR2
28positive regulation of interleukin-6 productionGO:00327559.5CD36, MYD88, TLR2, TLR4
29positive regulation of interleukin-12 productionGO:00327359.5CD36, TIRAP, TLR2, TLR4
30defense response to Gram-positive bacteriumGO:00508309.4CD36, MYD88, TIRAP, TLR2
31positive regulation of NF-kappaB transcription factor activityGO:00510929.4BTK, MYD88, TIRAP, TLR2, TLR4
32TRIF-dependent toll-like receptor signaling pathwayGO:00356669.2CD14, LY96, TLR4
33cellular response to lipopolysaccharideGO:00712229.2CD14, CD36, TLR4, TLR5
34regulation of cytokine secretionGO:00507079.0TLR1, TLR10, TLR4, TLR5, TLR6
35I-kappaB kinase/NF-kappaB signalingGO:00072499.0BTK, CD14, LY96, TIRAP, TLR4
36response to lipopolysaccharideGO:00324968.8CD14, LY96, MYD88, TIRAP, TLR4
37cellular response to lipoteichoic acidGO:00712238.8CD14, CD36, TIRAP, TLR2, TLR4
38immune responseGO:00069558.7TLR1, TLR10, TLR2, TLR4, TLR6
39cell surface receptor signaling pathwayGO:00071668.7CD14, CD36, LY96, MYD88, TIRAP
40positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431238.4CD36, IRAK4, MYD88, TIRAP, TLR4, TLR6
41positive regulation of tumor necrosis factor productionGO:00327608.0CD14, CD36, LY96, MYD88, TIRAP, TLR2
42signal transductionGO:00071657.1IRAK4, MYD88, TIRAP, TLR1, TLR10, TLR2
43inflammatory responseGO:00069547.1CD14, LY96, MYD88, TIRAP, TLR1, TLR10
44toll-like receptor 2 signaling pathwayGO:00341346.1BTK, CD14, CD36, IRAK4, LY96, MYD88
45toll-like receptor 4 signaling pathwayGO:00341426.1BTK, CD14, CD36, IRAK4, LY96, MYD88
46toll-like receptor TLR1:TLR2 signaling pathwayGO:00381236.1BTK, CD14, CD36, IRAK4, LY96, MYD88
47toll-like receptor TLR6:TLR2 signaling pathwayGO:00381246.0BTK, CD14, CD36, IRAK4, LY96, MYD88
48toll-like receptor signaling pathwayGO:00022245.6BTK, CD14, CD36, IRAK4, LY96, MYD88
49MyD88-dependent toll-like receptor signaling pathwayGO:00027555.5BTK, CD14, CD36, IRAK4, LY96, MYD88
50innate immune responseGO:00450875.0BTK, CD14, CD36, IRAK4, LY96, MYD88

Molecular functions related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:000514910.2IRAK4, MYD88, TLR5
2lipoteichoic acid bindingGO:007089110.1CD14, TLR2
3diacyl lipopeptide bindingGO:004249810.0TLR2, TLR6
4lipopolysaccharide receptor activityGO:00018759.9LY96, TLR2, TLR4
5lipopolysaccharide bindingGO:00015309.3CD14, TLR2, TLR4
6protein heterodimerization activityGO:00469828.6TIRAP, TLR1, TLR2, TLR6
7receptor activityGO:00048728.6TLR1, TLR2, TLR4, TLR6
8transmembrane signaling receptor activityGO:00048888.3TLR1, TLR10, TLR2, TLR4, TLR5, TLR6

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