IRAK4D
MCID: IRK001
MIFTS: 48

Irak4 Deficiency (IRAK4D)

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

Aliases & Classifications for Irak4 Deficiency

MalaCards integrated aliases for Irak4 Deficiency:

Name: Irak4 Deficiency 58 54 26 60 76 30 13 6 41 74
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 26 74
Irak-4 Deficiency 54 26
Irak4d 58 76
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 60
Interleukin Receptor-Associated Kinase Deficiency 54
Interleukin 1 Receptor-Associated Kinase 4 13

Characteristics:

Orphanet epidemiological data:

60
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:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 607676
ICD10 via Orphanet 35 D84.8
UMLS via Orphanet 75 C1843256
Orphanet 60 ORPHA70592
MedGen 43 C1843256
SNOMED-CT via HPO 70 165517008 234532001

Summaries for Irak4 Deficiency

NIH Rare Diseases : 54 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.

MalaCards based summary : Irak4 Deficiency, also known as interleukin-1 receptor-associated kinase 4 deficiency, is related to bacterial infectious disease and pelvic inflammatory disease. 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 t cells, liver and testes, and related phenotypes are immunodeficiency and neutropenia

Genetics Home Reference : 26 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 : 58 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 : 76 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Wikipedia : 77 IRAK-4 (interleukin-1 receptor-associated kinase 4), in the IRAK family, is a protein kinase involved in... more...

Related Diseases for Irak4 Deficiency

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 bacterial infectious disease 29.0 IRAK4 MYD88 TLR1 TLR2 TLR4 TLR5
2 pelvic inflammatory disease 28.7 TIRAP TLR1 TLR2 TLR4 TLR6
3 leukocyte adhesion deficiency, type iii 11.2
4 waldenstroem's macroglobulinemia 10.3 BTK MYD88
5 plasma protein metabolism disease 10.3 BTK MYD88
6 pleuropneumonia 10.2 IRAK4 MYD88
7 invasive pneumococcal disease, recurrent isolated, 1 10.2 IRAK4 TIRAP
8 ocular toxoplasmosis 10.1 TLR1 TLR5
9 pericarditis 10.1
10 pleural empyema 10.1
11 ariboflavinosis 10.0 TLR4 TLR6
12 urethritis 10.0 TLR1 TLR6
13 mycobacterium chelonae 10.0 CD14 TLR2
14 neutrophil migration 10.0
15 arthritis 10.0
16 juvenile rheumatoid arthritis 10.0
17 hyper ige syndrome 10.0
18 mycobacterium kansasii 10.0 CD14 TLR2
19 niemann-pick disease, type c2 10.0 LY96 TLR4
20 legionnaires' disease 10.0 TLR4 TLR5 TLR6
21 prosthetic joint infection 10.0 TLR2 TLR4
22 trench fever 9.9 TLR2 TLR4
23 fungal keratitis 9.9 TLR2 TLR4
24 mesenteric lymphadenitis 9.9 MYD88 TLR2
25 acute cervicitis 9.9 TLR2 TLR4
26 spondylarthropathy 9.9 TLR2 TLR4
27 bacteriuria 9.9 TIRAP TLR1 TLR4
28 myositis fibrosa 9.8 MYD88 TLR2 TLR4
29 paracoccidioidomycosis 9.8 MYD88 TLR2 TLR4
30 mycobacterium abscessus 9.8 TLR1 TLR2
31 toxoplasmosis 9.8 MYD88 TLR2 TLR4
32 alveolar echinococcosis 9.8 CD36 TLR2 TLR4
33 neisseria meningitidis infection 9.8 TLR2 TLR4
34 suppurative otitis media 9.8 TLR2 TLR4 TLR5
35 septic arthritis 9.7 TLR2 TLR4 TLR5
36 ileitis 9.7 TLR2 TLR4 TLR5
37 pneumonia 9.7 TLR2 TLR4 TLR5
38 neurosyphilis 9.6 TLR1 TLR2 TLR6
39 lyme disease 9.6 TLR1 TLR2 TLR6
40 legionellosis 9.6 MYD88 TLR2 TLR4 TLR5
41 scrub typhus 9.6 TLR2 TLR4
42 mycobacterium tuberculosis 1 9.5 MYD88 TLR1 TLR2 TLR4
43 inflammatory bowel disease 9.5 TLR2 TLR4 TLR5
44 penicilliosis 9.4 TLR1 TLR2 TLR4 TLR6
45 invasive aspergillosis 9.4 TLR1 TLR2 TLR4 TLR6
46 filariasis 9.4 TLR1 TLR2 TLR4 TLR6
47 q fever 9.3 TLR1 TLR10 TLR2 TLR4
48 immune system disease 9.3 LY96 TLR1 TLR10 TLR5 TLR6
49 malaria 9.3 CD36 MYD88 TIRAP TLR2 TLR4
50 melioidosis 8.9 LY96 TLR1 TLR10 TLR2 TLR4 TLR5

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



Diseases related to Irak4 Deficiency

Symptoms & Phenotypes for Irak4 Deficiency

Human phenotypes related to Irak4 Deficiency:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
2 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
3 recurrent streptococcus pneumoniae infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005366
4 recurrent staphylococcal infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0007499
5 recurrent bacterial infections 60 Very frequent (99-80%)

Clinical features from OMIM:

607676

MGI Mouse Phenotypes related to Irak4 Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.73 CD14 CD36 MYD88 TLR2 TLR4 TLR5
2 hematopoietic system MP:0005397 9.73 BTK CD14 CD36 IRAK4 LY96 MYD88
3 digestive/alimentary MP:0005381 9.63 BTK CD36 MYD88 TLR2 TLR4 TLR5
4 immune system MP:0005387 9.4 BTK CD14 CD36 IRAK4 LY96 MYD88

Drugs & Therapeutics for Irak4 Deficiency

Search Clinical Trials , NIH Clinical Center for Irak4 Deficiency

Genetic Tests for Irak4 Deficiency

Genetic tests related to Irak4 Deficiency:

# Genetic test Affiliating Genes
1 Irak4 Deficiency 30 IRAK4

Anatomical Context for Irak4 Deficiency

MalaCards organs/tissues related to Irak4 Deficiency:

42
T Cells, Liver, Testes, Neutrophil, Myeloid

Publications for Irak4 Deficiency

Articles related to Irak4 Deficiency:

(show all 22)
# Title Authors Year
1
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. ( 29531937 )
2018
2
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. ( 28503543 )
2017
3
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. ( 26825884 )
2016
4
Pseudomonas aeruginosa retro-orbital abscess and cerebritis leading to a diagnosis of interleukin-1 receptor-associated kinase-4 deficiency. ( 24183992 )
2015
5
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. ( 26884959 )
2015
6
Management of a transcranial abscess secondary to interleukin-1 receptor associated kinase 4 deficiency. ( 25569407 )
2015
7
Liver abscess complicated by diaphragm perforation and pleural empyema leads to the discovery of interleukin-1 receptor-associated kinase 4 deficiency. ( 24717963 )
2014
8
Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency. ( 23538514 )
2013
9
Successful prevention of severe infection in Japanese siblings with interleukin-1 receptor-associated kinase 4 deficiency. ( 20006779 )
2010
10
Profound reduction of invariant natural killer T cells in the peripheral blood of a patient with interleukin-1 receptor-associated kinase 4 deficiency. ( 20441778 )
2010
11
Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency. ( 19814626 )
2009
12
Staphylococcal pericarditis, and liver and paratracheal abscesses as presentations in two new cases of interleukin-1 receptor associated kinase 4 deficiency. ( 18174872 )
2008
13
Recurrent systemic pneumococcal disease and IRAK4 deficiency. ( 17984826 )
2007
14
Recurrent infection with genetically identical pneumococcal isolates in a patient with interleukin-1 receptor-associated kinase-4 deficiency. ( 17510276 )
2007
15
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. ( 17878374 )
2007
16
Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer. ( 16647421 )
2006
17
Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives. ( 16647422 )
2006
18
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells. ( 17114497 )
2006
19
Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency. ( 15825022 )
2005
20
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. ( 12925671 )
2003
21
Pyogenic bacterial infections in humans with IRAK-4 deficiency. ( 12637671 )
2003
22
Interleukin 12 deficiency associated with recurrent infections. ( 9789052 )
1998

Variations for Irak4 Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 IRAK4 p.Arg12Cys VAR_072888 rs377584435
2 IRAK4 p.Gly298Asp VAR_072892 rs568782766

ClinVar genetic disease variations for Irak4 Deficiency:

6 (show top 50) (show all 144)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRAK4 NM_016123.3(IRAK4): c.821delT (p.Leu274Profs) deletion Pathogenic GRCh38 Chromosome 12, 43777734: 43777734
2 IRAK4 NM_016123.3(IRAK4): c.821delT (p.Leu274Profs) deletion Pathogenic GRCh37 Chromosome 12, 44171537: 44171537
3 IRAK4 NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs121908002 GRCh37 Chromosome 12, 44172041: 44172041
4 IRAK4 NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs121908002 GRCh38 Chromosome 12, 43778238: 43778238
5 IRAK4 IRAK4, 2-BP DEL, 620AC deletion Pathogenic
6 IRAK4 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Likely pathogenic rs377584435 GRCh37 Chromosome 12, 44161948: 44161948
7 IRAK4 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Likely pathogenic rs377584435 GRCh38 Chromosome 12, 43768145: 43768145
8 IRAK4 NM_016123.3(IRAK4): c.831+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 12, 43777749: 43777749
9 IRAK4 NM_016123.3(IRAK4): c.831+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 12, 44171552: 44171552
10 IRAK4 NM_016123.3(IRAK4): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886049386 GRCh37 Chromosome 12, 44167829: 44167829
11 IRAK4 NM_016123.3(IRAK4): c.-54G> A single nucleotide variant Uncertain significance rs886049383 GRCh38 Chromosome 12, 43758972: 43758972
12 IRAK4 NM_016123.3(IRAK4): c.-54G> A single nucleotide variant Uncertain significance rs886049383 GRCh37 Chromosome 12, 44152775: 44152775
13 IRAK4 NM_016123.3(IRAK4): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886049386 GRCh38 Chromosome 12, 43774026: 43774026
14 IRAK4 NM_016123.3(IRAK4): c.1282G> A (p.Ala428Thr) single nucleotide variant Benign rs4251545 GRCh38 Chromosome 12, 43786492: 43786492
15 IRAK4 NM_016123.3(IRAK4): c.1282G> A (p.Ala428Thr) single nucleotide variant Benign rs4251545 GRCh37 Chromosome 12, 44180295: 44180295
16 IRAK4 NM_016123.3(IRAK4): c.*989T> G single nucleotide variant Uncertain significance rs4251584 GRCh37 Chromosome 12, 44181507: 44181507
17 IRAK4 NM_016123.3(IRAK4): c.*989T> G single nucleotide variant Uncertain significance rs4251584 GRCh38 Chromosome 12, 43787704: 43787704
18 IRAK4 NM_016123.3(IRAK4): c.*1306C> T single nucleotide variant Uncertain significance rs770097373 GRCh37 Chromosome 12, 44181824: 44181824
19 IRAK4 NM_016123.3(IRAK4): c.*1306C> T single nucleotide variant Uncertain significance rs770097373 GRCh38 Chromosome 12, 43788021: 43788021
20 IRAK4 NM_016123.3(IRAK4): c.*1435T> G single nucleotide variant Uncertain significance rs886049393 GRCh37 Chromosome 12, 44181953: 44181953
21 IRAK4 NM_016123.3(IRAK4): c.*1435T> G single nucleotide variant Uncertain significance rs886049393 GRCh38 Chromosome 12, 43788150: 43788150
22 IRAK4 NM_016123.3(IRAK4): c.*1794T> C single nucleotide variant Benign rs4251555 GRCh37 Chromosome 12, 44182312: 44182312
23 IRAK4 NM_016123.3(IRAK4): c.*1794T> C single nucleotide variant Benign rs4251555 GRCh38 Chromosome 12, 43788509: 43788509
24 IRAK4 NM_016123.3(IRAK4): c.*1974G> A single nucleotide variant Uncertain significance rs12321678 GRCh37 Chromosome 12, 44182492: 44182492
25 IRAK4 NM_016123.3(IRAK4): c.*1974G> A single nucleotide variant Uncertain significance rs12321678 GRCh38 Chromosome 12, 43788689: 43788689
26 IRAK4 NM_016123.3(IRAK4): c.*2071C> T single nucleotide variant Uncertain significance rs776314485 GRCh37 Chromosome 12, 44182589: 44182589
27 IRAK4 NM_016123.3(IRAK4): c.*2071C> T single nucleotide variant Uncertain significance rs776314485 GRCh38 Chromosome 12, 43788786: 43788786
28 IRAK4 NM_016123.3(IRAK4): c.*2188A> G single nucleotide variant Benign rs1141168 GRCh38 Chromosome 12, 43788903: 43788903
29 IRAK4 NM_016123.3(IRAK4): c.*2188A> G single nucleotide variant Benign rs1141168 GRCh37 Chromosome 12, 44182706: 44182706
30 IRAK4 NM_016123.3(IRAK4): c.*2666G> T single nucleotide variant Uncertain significance rs375914722 GRCh38 Chromosome 12, 43789381: 43789381
31 IRAK4 NM_016123.3(IRAK4): c.*2666G> T single nucleotide variant Uncertain significance rs375914722 GRCh37 Chromosome 12, 44183184: 44183184
32 IRAK4 NM_016123.3(IRAK4): c.613G> A (p.Val205Ile) single nucleotide variant Uncertain significance rs370225662 GRCh38 Chromosome 12, 43773034: 43773034
33 IRAK4 NM_016123.3(IRAK4): c.613G> A (p.Val205Ile) single nucleotide variant Uncertain significance rs370225662 GRCh37 Chromosome 12, 44166837: 44166837
34 IRAK4 NM_016123.3(IRAK4): c.*146T> C single nucleotide variant Likely benign rs4251546 GRCh38 Chromosome 12, 43786861: 43786861
35 IRAK4 NM_016123.3(IRAK4): c.*146T> C single nucleotide variant Likely benign rs4251546 GRCh37 Chromosome 12, 44180664: 44180664
36 IRAK4 NM_016123.3(IRAK4): c.*520T> A single nucleotide variant Uncertain significance rs4251550 GRCh38 Chromosome 12, 43787235: 43787235
37 IRAK4 NM_016123.3(IRAK4): c.*520T> A single nucleotide variant Uncertain significance rs4251550 GRCh37 Chromosome 12, 44181038: 44181038
38 IRAK4 NM_016123.3(IRAK4): c.*608A> G single nucleotide variant Likely benign rs4251551 GRCh37 Chromosome 12, 44181126: 44181126
39 IRAK4 NM_016123.3(IRAK4): c.*608A> G single nucleotide variant Likely benign rs4251551 GRCh38 Chromosome 12, 43787323: 43787323
40 IRAK4 NM_016123.3(IRAK4): c.*1115G> T single nucleotide variant Uncertain significance rs886049391 GRCh37 Chromosome 12, 44181633: 44181633
41 IRAK4 NM_016123.3(IRAK4): c.*1115G> T single nucleotide variant Uncertain significance rs886049391 GRCh38 Chromosome 12, 43787830: 43787830
42 IRAK4 NM_016123.3(IRAK4): c.*1161G> A single nucleotide variant Uncertain significance rs545334973 GRCh37 Chromosome 12, 44181679: 44181679
43 IRAK4 NM_016123.3(IRAK4): c.*1161G> A single nucleotide variant Uncertain significance rs545334973 GRCh38 Chromosome 12, 43787876: 43787876
44 IRAK4 NM_016123.3(IRAK4): c.*1325G> A single nucleotide variant Uncertain significance rs139778399 GRCh37 Chromosome 12, 44181843: 44181843
45 IRAK4 NM_016123.3(IRAK4): c.*1325G> A single nucleotide variant Uncertain significance rs139778399 GRCh38 Chromosome 12, 43788040: 43788040
46 IRAK4 NM_016123.3(IRAK4): c.*1999dupT duplication Uncertain significance rs886049394 GRCh37 Chromosome 12, 44182517: 44182517
47 IRAK4 NM_016123.3(IRAK4): c.*1999dupT duplication Uncertain significance rs886049394 GRCh38 Chromosome 12, 43788714: 43788714
48 IRAK4 NM_016123.3(IRAK4): c.*2083C> G single nucleotide variant Uncertain significance rs111813306 GRCh38 Chromosome 12, 43788798: 43788798
49 IRAK4 NM_016123.3(IRAK4): c.*2083C> G single nucleotide variant Uncertain significance rs111813306 GRCh37 Chromosome 12, 44182601: 44182601
50 IRAK4 NM_016123.3(IRAK4): c.*2345A> G single nucleotide variant Uncertain significance rs368152755 GRCh38 Chromosome 12, 43789060: 43789060

Expression for Irak4 Deficiency

Search GEO for disease gene expression data for Irak4 Deficiency.

Pathways for Irak4 Deficiency

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 BTK CD14 CD36 IRAK4 LY96 MYD88
2
Show member pathways
13.68 BTK CD14 CD36 IRAK4 LY96 MYD88
3
Show member pathways
13.53 BTK CD14 CD36 IRAK4 LY96 MYD88
4
Show member pathways
13.49 BTK CD14 CD36 LY96 MYD88 TIRAP
5
Show member pathways
13.44 BTK IRAK4 MYD88 TIRAP TLR1 TLR10
6
Show member pathways
13.26 BTK CD14 IRAK4 MYD88 TLR1 TLR10
7
Show member pathways
13.04 BTK CD14 IRAK4 LY96 MYD88 TIRAP
8
Show member pathways
12.89 IRAK4 MYD88 TIRAP TLR2 TLR4
9
Show member pathways
12.78 IRAK4 MYD88 TLR1 TLR10 TLR2 TLR4
10
Show member pathways
12.74 CD14 LY96 MYD88 TIRAP TLR4
11 12.63 BTK IRAK4 MYD88 TLR1 TLR2 TLR6
12
Show member pathways
12.57 BTK CD14 IRAK4 LY96 MYD88 TIRAP
13
Show member pathways
12.52 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
14
Show member pathways
12.48 CD14 LY96 TLR4 TLR5
15
Show member pathways
12.46 BTK CD14 CD36 IRAK4 LY96 MYD88
16
Show member pathways
12.4 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
17
Show member pathways
12.33 IRAK4 LY96 MYD88 TLR2 TLR4
18
Show member pathways
12.31 BTK CD14 IRAK4 LY96 MYD88 TIRAP
19
Show member pathways
12.3 IRAK4 MYD88 TIRAP TLR2 TLR5
20 12.3 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
21
Show member pathways
12.29 BTK CD14 LY96 TLR4
22
Show member pathways
12.29 BTK IRAK4 MYD88 TLR1 TLR10 TLR2
23 12.26 CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
24 12.23 CD14 CD36 TLR2 TLR4 TLR6
25
Show member pathways
12.17 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
26
Show member pathways
12.15 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
27
Show member pathways
12.12 CD14 CD36 LY96 TLR1 TLR2 TLR4
28
Show member pathways
12.1 BTK CD14 CD36 LY96 MYD88 TIRAP
29 12 BTK CD14 IRAK4 LY96 MYD88 TIRAP
30 11.95 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
31
Show member pathways
11.94 CD14 LY96 MYD88 TLR4
32 11.9 CD14 MYD88 TLR4 TLR5
33 11.88 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
34 11.85 CD14 TLR2 TLR4
35 11.84 BTK CD14 IRAK4 LY96 MYD88 TLR4
36 11.73 CD14 MYD88 TLR2 TLR4 TLR5
37 11.68 IRAK4 MYD88 TIRAP
38 11.68 CD14 LY96 MYD88 TLR4
39 11.63 CD36 MYD88 TLR2 TLR4
40
Show member pathways
11.54 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
41 11.43 CD14 CD36 LY96 TLR4
42 11.25 MYD88 TLR1 TLR2
43 11.23 CD14 LY96 TLR4
44 11.02 MYD88 TLR2
45 10.91 CD14 LY96 TLR4

GO Terms for Irak4 Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 BTK CD14 CD36 IRAK4 LY96 MYD88
2 integral component of plasma membrane GO:0005887 9.91 CD36 TLR1 TLR10 TLR2 TLR4 TLR6
3 endosome membrane GO:0010008 9.65 CD14 IRAK4 LY96 MYD88 TLR4
4 phagocytic vesicle membrane GO:0030670 9.58 TLR1 TLR2 TLR6
5 intrinsic component of plasma membrane GO:0031226 9.54 LY96 TLR2 TLR4
6 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.32 TLR1 TLR2
7 lipopolysaccharide receptor complex GO:0046696 9.13 CD14 LY96 TLR4
8 membrane raft GO:0045121 9.1 BTK CD14 CD36 TLR1 TLR2 TLR6

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

(show top 50) (show all 75)
# Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.99 CD36 MYD88 TIRAP TLR2
2 apoptotic signaling pathway GO:0097190 9.96 BTK CD14 LY96 TLR4
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 BTK CD14 LY96 TLR4
4 positive regulation of tumor necrosis factor production GO:0032760 9.95 CD14 CD36 LY96 MYD88 TIRAP TLR2
5 positive regulation of interleukin-6 production GO:0032755 9.94 CD36 MYD88 TLR2 TLR4
6 innate immune response GO:0045087 9.93 BTK CD14 IRAK4 LY96 MYD88 TIRAP
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.92 CD36 TLR4 TLR5 TLR6
8 lipopolysaccharide-mediated signaling pathway GO:0031663 9.92 CD14 LY96 MYD88 TLR2 TLR4
9 response to bacterium GO:0009617 9.91 CD14 CD36 TLR4
10 positive regulation of interleukin-8 production GO:0032757 9.91 MYD88 TIRAP TLR2 TLR4 TLR5
11 positive regulation of JNK cascade GO:0046330 9.9 MYD88 TIRAP TLR4
12 cellular response to mechanical stimulus GO:0071260 9.9 MYD88 TLR4 TLR5
13 positive regulation of inflammatory response GO:0050729 9.9 TLR10 TLR2 TLR4
14 positive regulation of interleukin-12 production GO:0032735 9.9 CD36 TIRAP TLR2 TLR4
15 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 CD14 TLR2 TLR4
16 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.89 CD14 LY96 TLR4 TLR6
17 cellular response to amyloid-beta GO:1904646 9.88 CD36 TLR4 TLR6
18 necroptotic process GO:0070266 9.85 CD14 LY96 TLR4
19 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.85 MYD88 TLR4 TLR6
20 toll-like receptor 4 signaling pathway GO:0034142 9.85 CD14 LY96 TLR4
21 cellular response to lipoteichoic acid GO:0071223 9.85 CD14 CD36 TIRAP TLR2 TLR4
22 negative regulation of growth of symbiont in host GO:0044130 9.84 CD36 MYD88 TIRAP
23 positive regulation of interleukin-8 secretion GO:2000484 9.84 CD14 TLR1 TLR2
24 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.84 CD36 MYD88 TLR4 TLR6
25 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 CD36 TLR4 TLR6
26 cell activation GO:0001775 9.82 TLR1 TLR2 TLR6
27 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.81 CD14 LY96 TLR4
28 interleukin-1 beta secretion GO:0050702 9.8 CD36 TLR4 TLR6
29 cellular response to diacyl bacterial lipopeptide GO:0071726 9.8 CD14 CD36 TLR2 TLR6
30 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.79 CD14 LY96 TLR4
31 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.79 TIRAP TLR1 TLR6
32 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.78 CD36 TLR4 TLR6
33 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.78 CD14 CD36 TLR2 TLR6
34 cellular response to bacterial lipopeptide GO:0071221 9.76 CD36 TIRAP TLR2
35 positive regulation of interferon-beta production GO:0032728 9.75 TLR2 TLR4
36 positive regulation of interleukin-10 production GO:0032733 9.75 TLR2 TLR4
37 positive regulation of chemokine production GO:0032722 9.75 TLR2 TLR4
38 microglial cell activation GO:0001774 9.75 TLR2 TLR6
39 cellular response to triacyl bacterial lipopeptide GO:0071727 9.75 CD14 TLR1 TLR2
40 response to fatty acid GO:0070542 9.74 CD36 TLR2
41 activation of NF-kappaB-inducing kinase activity GO:0007250 9.74 TIRAP TLR6
42 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
43 toll-like receptor 9 signaling pathway GO:0034162 9.74 IRAK4 MYD88
44 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.74 TLR2 TLR4
45 3'-UTR-mediated mRNA stabilization GO:0070935 9.74 MYD88 TIRAP
46 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.74 CD14 TLR1 TLR2
47 I-kappaB phosphorylation GO:0007252 9.73 TLR2 TLR4
48 response to molecule of bacterial origin GO:0002237 9.73 CD14 TLR2
49 macrophage activation GO:0042116 9.73 TLR1 TLR4
50 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR1 TLR4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.97 BTK MYD88 TIRAP TLR1 TLR10 TLR2
2 protein heterodimerization activity GO:0046982 9.88 TIRAP TLR1 TLR2 TLR4 TLR6
3 transmembrane signaling receptor activity GO:0004888 9.83 TLR1 TLR10 TLR4 TLR5 TLR6
4 signaling receptor activity GO:0038023 9.8 TLR1 TLR2 TLR4 TLR6
5 interleukin-1 receptor binding GO:0005149 9.58 IRAK4 MYD88 TLR5
6 lipopolysaccharide binding GO:0001530 9.56 CD14 LY96 TLR2 TLR4
7 Toll-like receptor binding GO:0035325 9.5 CD36 MYD88 TLR2
8 Toll-like receptor 4 binding GO:0035662 9.46 LY96 TIRAP
9 lipopolysaccharide receptor activity GO:0001875 9.33 LY96 TLR2 TLR4
10 Toll-like receptor 2 binding GO:0035663 9.13 TIRAP TLR1 TLR6
11 lipopeptide binding GO:0071723 8.92 CD14 TLR1 TLR2 TLR6
12 protein binding GO:0005515 10.32 BTK CD14 CD36 IRAK4 LY96 MYD88

Sources for Irak4 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....