MCID: IRK001
MIFTS: 44

Irak4 Deficiency malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Irak4 Deficiency

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Aliases & Descriptions for Irak4 Deficiency:

Name: Irak4 Deficiency 51 47 24 25 53 69 26 12 67
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 25 67
Irak-4 Deficiency 47 25
Irak4d 24 69
 
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 53
Interleukin Receptor-Associated Kinase Deficiency 47
Interleukin 1 Receptor-Associated Kinase 4 12

Characteristics:

Orphanet epidemiological data:

53
irak4 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

Classifications:



External Ids:

OMIM51 607676
Orphanet53 ORPHA70592
ICD10 via Orphanet30 D84.8
MedGen36 C1843256

Summaries for Irak4 Deficiency

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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.

MalaCards based summary: Irak4 Deficiency, also known as interleukin-1 receptor-associated kinase 4 deficiency, is related to fibrosis of extraocular muscles, congenital, 1 and sinonasal undifferentiated carcinoma, 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.

UniProtKB/Swiss-Prot:69 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

OMIM:51 IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see... (607676) more...

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
1fibrosis of extraocular muscles, congenital, 110.5IRAK4, TIRAP
2sinonasal undifferentiated carcinoma10.4TLR2, TLR4
3rickettsialpox10.4TLR2, TLR4
4atrial septal defect coronary sinus10.4TLR2, TLR4
5queensland tick typhus10.4MYD88, TLR2
6antigen-peptide-transporter 2 deficiency10.4TLR2, TLR4
7pernicious anemia10.3TLR2, TLR4
8mycobacterium fortuitum10.3TLR1, TLR2
9generalized atherosclerosis10.3BTK, MYD88
10toxocariasis10.3MYD88, TLR2, TLR4
11spondylohypoplasia, arthrogryposis and popliteal pterygium10.3TLR2, TLR4
12binocular vision disease10.3MYD88, TLR2, TLR4
13gastroduodenal crohn's disease10.3TLR2, TLR4, TLR5
14gallbladder lymphoma10.3TLR2, TLR4, TLR5
15plasmodium malariae malaria10.3IRAK4, MYD88
16uterine inversion10.3MYD88, TLR2, TLR4
17sheehan syndrome10.2IRAK4, TLR2, TLR4
18inner ear cancer10.2TLR2, TLR4
19atrial tachyarrhythmia with short pr interval10.2TIRAP, TLR2
20bartonellosis10.2TLR1, TLR2, TLR4
21mycobacterium gordonae10.2CD14, TLR2
22acute cholangitis10.2TLR2, TLR4
23mycobacterium xenopi10.2CD14, TLR2
24bacteremia10.2TIRAP, TLR2, TLR4
25paraneoplastic polyneuropathy10.1LY96, TLR2, TLR4
26accessory nerve disease10.1TLR2, TLR4
27nasopharyngitis10.1MYD88, TLR2, TLR4, TLR5
28choline deficiency disease9.9TLR4, TLR6
29pericarditis9.9
30pleural empyema9.9
31atopy9.9CD14, TLR2, TLR4
32askin's tumor9.8TIRAP, TLR2
33nevus mucinosis9.8TLR1, TLR2, TLR6
34trichosporonosis9.8TLR1, TLR2, TLR6
35pneumonia9.8
36hyper ige syndrome9.8
37tinea barbae9.8TLR1, TLR4, TLR6
38parametrium malignant neoplasm9.7TLR1, TLR2, TLR6
39abducens nerve neoplasm9.6TIRAP, TLR1, TLR2, TLR4, TLR5
40motion sickness9.6TLR10, TLR4, TLR6
41gastric ulcer9.5TLR1, TLR2, TLR4, TLR6
42malaria9.4CD36, MYD88, TIRAP, TLR2, TLR4
43compensatory emphysema9.2TIRAP, TLR1, TLR2, TLR4, TLR6
44melioidosis9.2LY96, TLR1, TLR10, TLR2, TLR4, TLR5
45ovary transitional cell carcinoma8.9MYD88, TIRAP, TLR1, TLR2, TLR4, TLR6
46anal atresia, hypospadias, and penoscrotal inversion6.8BTK, CD14, CD36, IRAK4, LY96, MYD88
47invasive pneumococcal disease, recurrent isolated, 16.3BTK, 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

Human phenotypes related to Irak4 Deficiency:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of neutrophils63 hallmark (90%) HP:0001874
2 abnormality of immune system physiology63 hallmark (90%) HP:0010978
3 abnormality of the lymphatic system63 hallmark (90%) HP:0100763
4 immunodeficiency63 53 Very frequent (99-80%) HP:0002721
5 neutropenia53 Very frequent (99-80%)
6 recurrent bacterial infections53 Very frequent (99-80%)
7 recurrent streptococcus pneumoniae infections53 Very frequent (99-80%)
8 recurrent staphylococcal infections53 Very frequent (99-80%)

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 Deficiency26 24 IRAK4

Anatomical Context for Irak4 Deficiency

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MalaCards organs/tissues related to Irak4 Deficiency:

35
Neutrophil

Animal Models for Irak4 Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Irak4 Deficiency:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2BTK, CD36, MYD88, TLR2, TLR4, TLR5
2MP:00053759.0CD14, CD36, MYD88, TLR2, TLR4, TLR5
3MP:00053767.9BTK, CD14, CD36, IRAK4, MYD88, TIRAP
4MP:00053976.3BTK, CD14, CD36, IRAK4, LY96, MYD88
5MP:00053875.5BTK, CD14, CD36, IRAK4, LY96, MYD88

Publications for Irak4 Deficiency

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Articles related to Irak4 Deficiency:

idTitleAuthorsYear
1
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. (26884959)
2015
2
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:

69
id Symbol AA change Variation ID SNP ID
1IRAK4p.Arg12CysVAR_072888rs377584435
2IRAK4p.Gly298AspVAR_072892rs568782766

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)SNVPathogenicrs377584435GRCh37Chr 12, 44161948: 44161948
2IRAK4IRAK4, IVS7DS, G-T, +5SNVPathogenicChr na, -1: -1
3IRAK4IRAK4, 1-BP DEL, 821TdeletionPathogenicChr na, -1: -1
4IRAK4NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter)SNVPathogenicrs121908002GRCh37Chr 12, 44172041: 44172041
5IRAK4IRAK4, 2-BP DEL, 620ACdeletionPathogenicChr na, -1: -1

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 36)
idSuper pathwaysScoreTop Affiliating Genes
19.9MYD88, TLR2
29.5IRAK4, MYD88, TIRAP
3
Show member pathways
9.3IRAK4, MYD88, TLR2, TLR4
49.2CD14, TLR2, TLR4
59.1CD14, LY96, TLR4
69.1CD14, LY96, TLR4
79.1CD36, MYD88, TLR2, TLR4
89.0CD36, TLR2, TLR4, TLR5
9
Show member pathways
9.0CD14, MYD88, TLR4, TLR5
10
Show member pathways
8.9IRAK4, LY96, MYD88, TLR2, TLR4
118.8CD14, LY96, MYD88, TLR4
12
Show member pathways
8.8CD14, LY96, TLR4, TLR5
138.7CD14, MYD88, TLR2, TLR4, TLR5
148.6CD14, CD36, LY96, TLR4
158.2CD14, IRAK4, LY96, MYD88, TIRAP, TLR4
16
Show member pathways
8.2CD14, IRAK4, LY96, MYD88, TIRAP, TLR4
17
Show member pathways
8.2CD14, IRAK4, LY96, MYD88, TIRAP, TLR4
188.1BTK, IRAK4, MYD88, TLR1, TLR2, TLR6
197.9CD14, CD36, TLR2, TLR4, TLR6
20
Show member pathways
7.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
217.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
227.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
23
Show member pathways
7.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
24
Show member pathways
7.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
25
Show member pathways
7.9TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
267.8BTK, CD14, IRAK4, LY96, MYD88, TIRAP
27
Show member pathways
7.4IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
28
Show member pathways
7.3BTK, IRAK4, TLR1, TLR10, TLR2, TLR4
297.1CD14, IRAK4, MYD88, TIRAP, TLR1, TLR2
30
Show member pathways
6.6BTK, IRAK4, MYD88, TIRAP, TLR1, TLR10
31
Show member pathways
6.4CD14, IRAK4, LY96, MYD88, TIRAP, TLR1
32
Show member pathways
6.4CD14, IRAK4, LY96, MYD88, TIRAP, TLR1
33
Show member pathways
6.4BTK, CD14, IRAK4, MYD88, TLR1, TLR10
34
Show member pathways
5.5BTK, CD14, IRAK4, LY96, MYD88, TIRAP
35
Show member pathways
5.0BTK, CD14, CD36, IRAK4, LY96, MYD88
36
Show member pathways
5.0BTK, 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
2intrinsic component of plasma membraneGO:003122610.0LY96, TLR2, TLR4
3lipopolysaccharide receptor complexGO:00466969.8CD14, LY96, TLR4
4phagocytic vesicle membraneGO:00306709.4TLR1, TLR2, TLR6
5endosome membraneGO:00100089.0CD14, IRAK4, LY96, MYD88, TLR4
6Golgi apparatusGO:00057948.1CD14, CD36, TLR1, TLR2, TLR6
7membrane raftGO:00451217.7BTK, CD14, CD36, TLR1, TLR2, TLR6
8integral component of plasma membraneGO:00058877.4CD36, TLR1, TLR10, TLR2, TLR4, TLR5
9plasma membraneGO:00058864.7BTK, CD14, CD36, IRAK4, LY96, MYD88

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lymphocyte proliferationGO:005067110.6MYD88, TLR4
2positive regulation of toll-like receptor signaling pathwayGO:003412310.6TLR2, TLR5
3detection of triacyl bacterial lipopeptideGO:004249510.5TLR1, TLR2
4detection of lipopolysaccharideGO:003249710.4LY96, TLR4
5macrophage activationGO:004211610.4TLR1, TLR4
6I-kappaB phosphorylationGO:000725210.4TLR2, TLR4
7positive regulation of tumor necrosis factor biosynthetic processGO:004253510.4TLR1, TLR4
83-UTR-mediated mRNA stabilizationGO:007093510.3MYD88, TIRAP
9positive regulation of macrophage cytokine productionGO:006090710.3CD36, TLR4
10cellular response to mechanical stimulusGO:007126010.1MYD88, TLR4, TLR5
11detection of diacyl bacterial lipopeptideGO:004249610.0TLR2, TLR6
12response to bacterial lipoproteinGO:003249310.0TLR2, TLR6
13positive regulation of JNK cascadeGO:004633010.0MYD88, TIRAP, TLR4
14T-helper 1 type immune responseGO:004208810.0TLR4, TLR6
15nitric oxide metabolic processGO:00462099.9TLR2, TLR6
16positive regulation of inflammatory responseGO:00507299.9TLR10, TLR2, TLR4
17cellular response to bacterial lipopeptideGO:00712219.9CD36, TIRAP, TLR2
18toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.8CD14, TLR1, TLR2
19cellular response to triacyl bacterial lipopeptideGO:00717279.8CD14, TLR1, TLR2
20negative regulation of growth of symbiont in hostGO:00441309.8CD36, MYD88, TIRAP
21MyD88-independent toll-like receptor signaling pathwayGO:00027569.7CD14, LY96, TLR4
22negative regulation of MyD88-independent toll-like receptor signaling pathwayGO:00341289.7CD14, LY96, TLR4
23TRIF-dependent toll-like receptor signaling pathwayGO:00356669.7CD14, LY96, TLR4
24positive regulation of interleukin-6 biosynthetic processGO:00454109.6TIRAP, TLR1, TLR6
25positive regulation of interleukin-12 productionGO:00327359.5CD36, TIRAP, TLR2, TLR4
26positive regulation of NLRP3 inflammasome complex assemblyGO:19002279.5CD36, TLR4, TLR6
27interleukin-1 beta secretionGO:00507029.5CD36, TLR4, TLR6
28positive regulation of interleukin-6 productionGO:00327559.4CD36, MYD88, TLR2, TLR4
29positive regulation of interleukin-8 productionGO:00327579.4TIRAP, TLR2, TLR4, TLR5
30toll-like receptor 4 signaling pathwayGO:00341429.3CD14, LY96, TIRAP, TLR4
31I-kappaB kinase/NF-kappaB signalingGO:00072499.3BTK, CD14, LY96, TLR4
32necroptotic processGO:00702669.2CD14, LY96, TLR4
33positive regulation of NF-kappaB transcription factor activityGO:00510929.2BTK, MYD88, TIRAP, TLR2, TLR4
34lipopolysaccharide-mediated signaling pathwayGO:00316639.1CD14, LY96, MYD88, TLR2, TLR4
35defense response to Gram-positive bacteriumGO:00508309.0CD36, MYD88, TIRAP, TLR2
36cellular response to lipoteichoic acidGO:00712238.9CD14, CD36, TIRAP, TLR2, TLR4
37cellular response to diacyl bacterial lipopeptideGO:00717268.8CD14, CD36, TLR2, TLR6
38toll-like receptor TLR6:TLR2 signaling pathwayGO:00381248.8CD14, CD36, TLR2, TLR6
39cellular response to lipopolysaccharideGO:00712228.8CD14, CD36, LY96, TLR4, TLR5
40regulation of cytokine secretionGO:00507078.6TLR1, TLR10, TLR2, TLR4, TLR5, TLR6
41apoptotic signaling pathwayGO:00971908.4BTK, CD14, LY96, TLR4
42positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431238.4CD36, IRAK4, MYD88, TIRAP, TLR4, TLR6
43response to lipopolysaccharideGO:00324968.4CD14, LY96, MYD88, TIRAP, TLR2, TLR4
44cell surface receptor signaling pathwayGO:00071668.2CD14, CD36, LY96, MYD88, TIRAP
45positive regulation of tumor necrosis factor productionGO:00327608.1CD14, CD36, LY96, MYD88, TIRAP, TLR2
46toll-like receptor signaling pathwayGO:00022248.1IRAK4, MYD88, TLR1, TLR10, TLR2, TLR4
47immune responseGO:00069557.5CD36, TLR1, TLR10, TLR2, TLR4, TLR6
48inflammatory responseGO:00069546.3CD14, LY96, MYD88, TIRAP, TLR1, TLR10
49innate immune responseGO:00450875.6BTK, CD14, IRAK4, LY96, MYD88, TIRAP
50MyD88-dependent toll-like receptor signaling pathwayGO:00027555.6BTK, CD14, CD36, IRAK4, LY96, MYD88

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:000514910.2IRAK4, MYD88, TLR5
2lipopolysaccharide receptor activityGO:00018759.9LY96, TLR2, TLR4
3lipopeptide bindingGO:00717239.4TLR1, TLR2, TLR6
4Toll-like receptor 2 bindingGO:00356639.4TIRAP, TLR1, TLR6
5lipopolysaccharide bindingGO:00015309.2CD14, TLR2, TLR4
6receptor activityGO:00048728.3TLR1, TLR2, TLR4, TLR5, TLR6
7transmembrane signaling receptor activityGO:00048887.6TLR1, TLR10, TLR2, TLR4, TLR5, TLR6

Sources for Irak4 Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet