IRAK4D
MCID: IRK001
MIFTS: 51

Irak4 Deficiency (IRAK4D)

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

Aliases & Classifications for Irak4 Deficiency

MalaCards integrated aliases for Irak4 Deficiency:

Name: Irak4 Deficiency 56 52 25 58 73 13 39 71
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 58 29 6
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 25 71
Irak-4 Deficiency 52 25
Irak4d 56 73
Interleukin Receptor-Associated Kinase Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare immunological diseases


External Ids:

OMIM 56 607676
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C1843256
Orphanet 58 ORPHA70592
MedGen 41 C1843256
SNOMED-CT via HPO 68 165517008 234532001
UMLS 71 C1843256 C3697183

Summaries for Irak4 Deficiency

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. Streptococcus pneumoniae Staphylococcus aureus Pseudomonas aeruginosa Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.

MalaCards based summary : Irak4 Deficiency, also known as immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency, is related to hyper ige syndrome and peritonitis. 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 eye, brain and spinal cord, and related phenotypes are immunodeficiency and neutropenia

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Wikipedia : 74 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 128)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 29.7 TLR4 TLR2 IRAK4
2 peritonitis 29.6 TLR4 TLR2 CD14
3 meningitis 29.0 TLR4 TLR2 TLR10 IRAK4 BTK
4 bacterial infectious disease 27.8 TLR5 TLR4 TLR2 TLR1 MYD88 IRAK4
5 leukocyte adhesion deficiency, type i 11.3
6 invasive pneumococcal disease, recurrent isolated 10.3 TIRAP IRAK4
7 cataract 30 10.2 MYD88 LY96
8 pneumococcal meningitis 10.2
9 mycobacterium chelonae 10.2 TLR2 CD14
10 waldenstroem's macroglobulinemia 10.2 MYD88 BTK
11 mycobacterium kansasii 10.2 TLR2 CD14
12 human monocytic ehrlichiosis 10.1 TLR2 MYD88
13 pericarditis 10.1
14 pleural empyema 10.1
15 neutrophil migration 10.0
16 immune deficiency disease 10.0
17 juvenile arthritis 10.0
18 juvenile rheumatoid arthritis 10.0
19 arthritis 10.0
20 lung disease 10.0
21 mycobacterium abscessus 10.0 TLR2 TLR1
22 dilated cardiomyopathy 10.0
23 lymphadenitis 10.0
24 cervical adenitis 10.0
25 prosthetic joint infection 9.9 TLR4 TLR2
26 fungal keratitis 9.9 TLR4 TLR2
27 neisseria meningitidis infection 9.9 TLR4 TLR2
28 spondylarthropathy 9.9 TLR4 TLR2
29 hereditary angioedema with normal c1inh 9.8 TLR4 TLR2
30 ocular toxoplasmosis 9.8 TLR5 TLR1
31 pneumonic plague 9.8 TLR4 TLR2
32 dental pulp disease 9.8 TLR4 TLR2
33 gastrointestinal tularemia 9.8 TLR4 TLR2 MYD88
34 tularemia 9.8 TLR4 TLR2 MYD88
35 pneumonic tularemia 9.8 TLR4 TLR2 MYD88
36 silo filler's disease 9.8 TLR4 TLR2 MYD88
37 bubonic plague 9.8 TLR4 TLR2
38 neurosyphilis 9.8 TLR6 TLR2 TLR1
39 meningococcal meningitis 9.7 TLR4 TLR2
40 listeriosis 9.7 TLR4 TLR2 MYD88
41 splenic disease 9.7 TLR4 TLR2 MYD88
42 paracoccidioidomycosis 9.7 TLR4 TLR2 MYD88
43 alveolar echinococcosis 9.7 TLR4 TLR2 CD36
44 platelet glycoprotein iv deficiency 9.7 TLR4 TLR2 CD36
45 leukemia, acute monocytic 9.7 TLR4 TLR2 CD14
46 urethritis 9.7 TLR4 TLR2
47 pertussis 9.7 TLR4 TIRAP MYD88 IRAK4
48 lyme disease 9.7 TLR6 TLR2 TLR1
49 non-alcoholic steatohepatitis 9.6 TLR4 TLR2 CD36
50 toxic pneumonitis 9.6 TLR6 TLR4 TLR10

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
3 recurrent streptococcus pneumoniae infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005366
4 recurrent staphylococcal infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0007499
5 recurrent bacterial infections 58 Very frequent (99-80%)

Clinical features from OMIM:

607676

MGI Mouse Phenotypes related to Irak4 Deficiency:

45
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Inflammatory Responses in Normal Volunteers and Patients With Abnormal Phagocyte Function Using the Suction Blister Technique Terminated NCT00001257

Search NIH Clinical Center for Irak4 Deficiency

Genetic Tests for Irak4 Deficiency

Genetic tests related to Irak4 Deficiency:

# Genetic test Affiliating Genes
1 Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 29 IRAK4

Anatomical Context for Irak4 Deficiency

MalaCards organs/tissues related to Irak4 Deficiency:

40
Eye, Brain, Spinal Cord, Skin, T Cells, Neutrophil, Myeloid

Publications for Irak4 Deficiency

Articles related to Irak4 Deficiency:

(show all 22)
# Title Authors PMID Year
1
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. 6 56
17878374 2007
2
Pyogenic bacterial infections in humans with IRAK-4 deficiency. 56 6
12637671 2003
3
Interleukin 12 deficiency associated with recurrent infections. 6 56
9789052 1998
4
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 56
19414794 2009
5
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. 56
17893200 2007
6
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells. 6
17114497 2006
7
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. 56
15069404 2004
8
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. 6
12925671 2003
9
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant. 61
32532880 2020
10
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
29531937 2018
11
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. 61
28702714 2017
12
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
28503543 2017
13
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. 61
26825884 2016
14
Interleukin-1 receptor-associated kinase-4 (IRAK4) promotes inflammatory osteolysis by activating osteoclasts and inhibiting formation of foreign body giant cells. 61
25404736 2015
15
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. 61
26884959 2015
16
A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival. 61
24973222 2014
17
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 61
24316379 2014
18
IRAK4 turns IL-10+ phospho-FOXO+ monocytes into pro-inflammatory cells by suppression of protein kinase B. 61
23519847 2013
19
Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity. 61
20105294 2010
20
Flow cytometric investigation of neutrophil oxidative burst and apoptosis in physiological and pathological situations. 61
19358285 2009
21
Recurrent systemic pneumococcal disease and IRAK4 deficiency. 61
17984826 2007
22
Towards subtlety: understanding the role of Toll-like receptor signaling in susceptibility to human infections. 61
16563867 2006

Variations for Irak4 Deficiency

ClinVar genetic disease variations for Irak4 Deficiency:

6 (show top 50) (show all 121) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRAK4 NM_016123.3(IRAK4):c.88G>T (p.Glu30Ter)SNV Pathogenic 533523 rs1443126481 12:44162002-44162002 12:43768199-43768199
2 IRAK4 NM_016123.3(IRAK4):c.547C>T (p.Arg183Ter)SNV Pathogenic 567326 rs114951157 12:44166771-44166771 12:43772968-43772968
3 IRAK4 NM_001145256.1(IRAK4):c.-65-898deldeletion Pathogenic 464933 rs1555167566 12:44165082-44165082 12:43771279-43771279
4 IRAK4 NM_016123.4(IRAK4):c.518T>A (p.Leu173Ter)SNV Pathogenic 858438 12:44166742-44166742 12:43772939-43772939
5 IRAK4 NM_016123.4(IRAK4):c.1049del (p.Gly350fs)deletion Pathogenic 870469 12:44176215-44176215 12:43782412-43782412
6 IRAK4 NM_016123.3(IRAK4):c.821del (p.Leu274fs)deletion Pathogenic 3838 rs1565678077 12:44171537-44171537 12:43777734-43777734
7 IRAK4 NM_016123.3(IRAK4):c.877C>T (p.Gln293Ter)SNV Pathogenic 3839 rs121908002 12:44172041-44172041 12:43778238-43778238
8 IRAK4 IRAK4, 2-BP DEL, 620ACdeletion Pathogenic 3840
9 IRAK4 NM_016123.4(IRAK4):c.781del (p.Val261fs)deletion Pathogenic 853817 12:44171497-44171497 12:43777694-43777694
10 IRAK4 NM_016123.4(IRAK4):c.869_885del (p.Lys290fs)deletion Pathogenic 846951 12:44172029-44172045 12:43778226-43778242
11 IRAK4 NM_016123.3(IRAK4):c.831+5G>TSNV Pathogenic 30610 rs758539498 12:44171552-44171552 12:43777749-43777749
12 IRAK4 NC_000012.11:g.(?_44177445)_(44180538_?)deldeletion Likely pathogenic 464931 12:44177445-44180538
13 IRAK4 NM_016123.3(IRAK4):c.34C>T (p.Arg12Cys)SNV Likely pathogenic 30609 rs377584435 12:44161948-44161948 12:43768145-43768145
14 IRAK4 NM_016123.3(IRAK4):c.717-1G>TSNV Likely pathogenic 464935 rs1555169270 12:44171432-44171432 12:43777629-43777629
15 IRAK4 NM_016123.3(IRAK4):c.291G>A (p.Ala97=)SNV Conflicting interpretations of pathogenicity 464934 rs17851028 12:44165152-44165152 12:43771349-43771349
16 IRAK4 NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)SNV Conflicting interpretations of pathogenicity 763737 12:44161927-44161927 12:43768124-43768124
17 IRAK4 NM_016123.3(IRAK4):c.720T>C (p.Cys240=)SNV Conflicting interpretations of pathogenicity 308729 rs144854858 12:44171436-44171436 12:43777633-43777633
18 IRAK4 NM_016123.3(IRAK4):c.742C>T (p.Leu248=)SNV Conflicting interpretations of pathogenicity 308730 rs375755560 12:44171458-44171458 12:43777655-43777655
19 IRAK4 NM_016123.3(IRAK4):c.1191A>G (p.Leu397=)SNV Uncertain significance 308731 rs773095217 12:44180204-44180204 12:43786401-43786401
20 IRAK4 NM_016123.3(IRAK4):c.1347+13deldeletion Uncertain significance 308733 rs751119487 12:44180368-44180368 12:43786565-43786565
21 IRAK4 NM_016123.3(IRAK4):c.-66G>ASNV Uncertain significance 308722 rs570128219 12:44152763-44152763 12:43758960-43758960
22 IRAK4 NM_016123.3(IRAK4):c.526G>T (p.Val176Phe)SNV Uncertain significance 308726 rs886049385 12:44166750-44166750 12:43772947-43772947
23 IRAK4 NM_016123.3(IRAK4):c.*1028T>CSNV Uncertain significance 308743 rs886049390 12:44181546-44181546 12:43787743-43787743
24 IRAK4 NM_016123.3(IRAK4):c.*2817A>GSNV Uncertain significance 308771 rs4251564 12:44183335-44183335 12:43789532-43789532
25 IRAK4 NM_016123.3(IRAK4):c.-75C>TSNV Uncertain significance 308721 rs886049382 12:44152754-44152754 12:43758951-43758951
26 IRAK4 NM_016123.3(IRAK4):c.-16C>GSNV Uncertain significance 308724 rs886049384 12:44152813-44152813 12:43759010-43759010
27 IRAK4 NM_016123.3(IRAK4):c.*2198T>CSNV Uncertain significance 308763 rs563217241 12:44182716-44182716 12:43788913-43788913
28 IRAK4 NM_001114182.2(IRAK4):c.*81_*83CTT[1]short repeat Uncertain significance 308734 rs886049388 12:44180597-44180599 12:43786794-43786796
29 IRAK4 NM_016123.3(IRAK4):c.*1306C>TSNV Uncertain significance 308748 rs770097373 12:44181824-44181824 12:43788021-43788021
30 IRAK4 NM_016123.3(IRAK4):c.*1435T>GSNV Uncertain significance 308750 rs886049393 12:44181953-44181953 12:43788150-43788150
31 IRAK4 NM_016123.3(IRAK4):c.*2071C>TSNV Uncertain significance 308759 rs776314485 12:44182589-44182589 12:43788786-43788786
32 IRAK4 NM_016123.3(IRAK4):c.*2666G>TSNV Uncertain significance 308768 rs375914722 12:44183184-44183184 12:43789381-43789381
33 IRAK4 NM_016123.3(IRAK4):c.613G>A (p.Val205Ile)SNV Uncertain significance 308727 rs370225662 12:44166837-44166837 12:43773034-43773034
34 IRAK4 NM_016123.3(IRAK4):c.*520T>ASNV Uncertain significance 308738 rs4251550 12:44181038-44181038 12:43787235-43787235
35 IRAK4 NM_016123.3(IRAK4):c.*1115G>TSNV Uncertain significance 308744 rs886049391 12:44181633-44181633 12:43787830-43787830
36 IRAK4 NM_016123.3(IRAK4):c.*1161G>ASNV Uncertain significance 308745 rs545334973 12:44181679-44181679 12:43787876-43787876
37 IRAK4 NM_016123.3(IRAK4):c.*1999dupduplication Uncertain significance 308758 rs886049394 12:44182509-44182510 12:43788706-43788707
38 IRAK4 NM_016123.3(IRAK4):c.*2345A>GSNV Uncertain significance 308764 rs368152755 12:44182863-44182863 12:43789060-43789060
39 IRAK4 NM_016123.3(IRAK4):c.*574C>TSNV Uncertain significance 308739 rs886049389 12:44181092-44181092 12:43787289-43787289
40 IRAK4 NM_016123.3(IRAK4):c.*1162T>GSNV Uncertain significance 308746 rs886049392 12:44181680-44181680 12:43787877-43787877
41 IRAK4 NM_016123.3(IRAK4):c.*1668C>GSNV Uncertain significance 308751 rs576135948 12:44182186-44182186 12:43788383-43788383
42 IRAK4 NM_016123.3(IRAK4):c.*2076C>TSNV Uncertain significance 308760 rs886049395 12:44182594-44182594 12:43788791-43788791
43 IRAK4 NM_016123.3(IRAK4):c.*2471G>ASNV Uncertain significance 308766 rs886049396 12:44182989-44182989 12:43789186-43789186
44 IRAK4 NM_016123.3(IRAK4):c.*2563G>ASNV Uncertain significance 308767 rs756483703 12:44183081-44183081 12:43789278-43789278
45 IRAK4 NM_016123.4(IRAK4):c.93A>T (p.Gly31=)SNV Uncertain significance 836870 12:44162007-44162007 12:43768204-43768204
46 IRAK4 NM_016123.4(IRAK4):c.467A>G (p.Lys156Arg)SNV Uncertain significance 860771 12:44166142-44166142 12:43772339-43772339
47 IRAK4 NM_016123.4(IRAK4):c.610T>G (p.Tyr204Asp)SNV Uncertain significance 843824 12:44166834-44166834 12:43773031-43773031
48 IRAK4 NM_016123.4(IRAK4):c.-65C>ASNV Uncertain significance 881399 12:44152764-44152764 12:43758961-43758961
49 IRAK4 NM_016123.4(IRAK4):c.-5A>GSNV Uncertain significance 881400 12:44161910-44161910 12:43768107-43768107
50 IRAK4 NM_016123.4(IRAK4):c.103T>A (p.Leu35Ile)SNV Uncertain significance 881838 12:44162017-44162017 12:43768214-43768214

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

73
# Symbol AA change Variation ID SNP ID
1 IRAK4 p.Arg12Cys VAR_072888 rs377584435
2 IRAK4 p.Gly298Asp VAR_072892 rs568782766

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2
Show member pathways
13.68 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
3
Show member pathways
13.53 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
4
Show member pathways
13.49 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
5
Show member pathways
13.45 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
6
Show member pathways
13.26 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
7
Show member pathways
13.03 TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
8
Show member pathways
12.8 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
9
Show member pathways
12.79 TLR4 TLR2 MYD88 IRAK4 BTK
10
Show member pathways
12.64 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
11 12.63 TLR6 TLR2 TLR1 MYD88 IRAK4 BTK
12
Show member pathways
12.54 TLR4 TLR2 TIRAP MYD88
13
Show member pathways
12.4 TLR5 TLR4 LY96 CD14
14
Show member pathways
12.4 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
15
Show member pathways
12.4 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
16 12.37 TLR5 TLR4 MYD88 CD14
17
Show member pathways
12.37 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
18 12.34 TLR5 TLR4 TIRAP MYD88 IRAK4
19 12.34 TLR6 TLR5 TLR4 TLR2 TIRAP MYD88
20
Show member pathways
12.33 TLR4 TLR2 MYD88 LY96 IRAK4
21 12.33 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
22 12.32 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
23
Show member pathways
12.31 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
24
Show member pathways
12.29 TLR4 LY96 CD14 BTK
25
Show member pathways
12.24 TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
26 12.22 TLR6 TLR4 TLR2 CD36 CD14
27
Show member pathways
12.17 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
28 12.14 TLR4 MYD88 IRAK4
29
Show member pathways
12.09 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
30 12.09 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
31 12.06 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
32
Show member pathways
11.99 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
33 11.95 TLR4 MYD88 IRAK4
34 11.95 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
35
Show member pathways
11.94 TLR4 MYD88 LY96 CD14
36 11.89 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
37 11.88 TLR4 TLR2 CD14
38 11.77 TLR5 TLR4 TLR2 MYD88 CD14
39
Show member pathways
11.71 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
40 11.68 TIRAP MYD88 IRAK4
41 11.68 TLR4 MYD88 LY96 CD14
42 11.65 TLR4 TLR2 MYD88 CD36
43 11.44 TLR4 LY96 CD36 CD14
44 11.31 MYD88 IRAK4 CD14
45 11.25 TLR2 TLR1 MYD88
46 11.23 TLR4 LY96 CD14
47 11.13 MYD88 IRAK4
48 11.02 TLR2 MYD88
49 10.92 TLR4 LY96 CD14

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 integral component of plasma membrane GO:0005887 9.95 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 Golgi apparatus GO:0005794 9.93 TLR6 TLR4 TLR2 TLR1 CD36 CD14
3 endosome membrane GO:0010008 9.65 TLR4 MYD88 LY96 IRAK4 CD14
4 phagocytic vesicle membrane GO:0030670 9.61 TLR6 TLR2 TLR1
5 intrinsic component of plasma membrane GO:0031226 9.54 TLR4 TLR2 LY96
6 plasma membrane GO:0005886 9.44 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
7 membrane raft GO:0045121 9.43 TLR6 TLR2 TLR1 CD36 CD14 BTK
8 lipopolysaccharide receptor complex GO:0046696 9.33 TLR4 LY96 CD14
9 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.32 TLR2 TLR1

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.31 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 immune response GO:0006955 10.14 TLR6 TLR4 TLR2 TLR10 TLR1 CD36
3 positive regulation of gene expression GO:0010628 10.11 TLR6 TLR4 TLR2 MYD88 CD36
4 cell surface receptor signaling pathway GO:0007166 10.08 TIRAP MYD88 LY96 CD36 CD14
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.06 TLR6 TLR4 TIRAP MYD88 IRAK4 CD36
6 cellular response to lipopolysaccharide GO:0071222 10.05 TLR5 TLR4 MYD88 LY96 CD36 CD14
7 response to lipopolysaccharide GO:0032496 10.04 TLR4 TLR2 TIRAP MYD88 LY96 CD14
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.04 TLR6 TLR4 TLR2 TIRAP MYD88 CD36
9 defense response to bacterium GO:0042742 10.02 TLR6 TLR5 TLR4 MYD88
10 inflammatory response GO:0006954 10.02 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
11 toll-like receptor signaling pathway GO:0002224 10 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
12 defense response to Gram-positive bacterium GO:0050830 9.98 TLR2 TIRAP MYD88 CD36
13 apoptotic signaling pathway GO:0097190 9.95 TLR4 LY96 CD14 BTK
14 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.94 TLR4 LY96 CD14 BTK
15 positive regulation of interleukin-6 production GO:0032755 9.94 TLR4 TLR2 MYD88 CD36
16 lipopolysaccharide-mediated signaling pathway GO:0031663 9.93 TLR4 TLR2 MYD88 LY96 CD14
17 innate immune response GO:0045087 9.93 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
18 response to bacterium GO:0009617 9.92 TLR4 CD36 CD14
19 positive regulation of nitric oxide biosynthetic process GO:0045429 9.92 TLR6 TLR5 TLR4 CD36
20 positive regulation of interleukin-8 production GO:0032757 9.92 TLR5 TLR4 TLR2 TIRAP MYD88
21 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.91 TLR6 TLR4 LY96 CD14
22 positive regulation of tumor necrosis factor production GO:0032760 9.91 TLR4 TLR2 TIRAP MYD88 LY96 CD36
23 positive regulation of inflammatory response GO:0050729 9.9 TLR4 TLR2 TLR10
24 positive regulation of JNK cascade GO:0046330 9.9 TLR4 TIRAP MYD88
25 cellular response to mechanical stimulus GO:0071260 9.9 TLR5 TLR4 MYD88
26 positive regulation of interleukin-12 production GO:0032735 9.9 TLR4 TLR2 TIRAP CD36
27 phagocytosis GO:0006909 9.89 TLR4 MYD88 CD14
28 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 TLR4 TLR2 CD14
29 cellular response to amyloid-beta GO:1904646 9.88 TLR6 TLR4 CD36
30 positive regulation of interleukin-8 secretion GO:2000484 9.86 TLR4 TLR2 TLR1 CD14
31 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.85 TLR6 TLR4 MYD88
32 necroptotic process GO:0070266 9.85 TLR4 LY96 CD14
33 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.85 TLR4 LY96 CD14
34 toll-like receptor 4 signaling pathway GO:0034142 9.85 TLR4 LY96 CD14
35 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.85 TLR6 TLR4 MYD88 CD36
36 regulation of cytokine secretion GO:0050707 9.85 TLR6 TLR5 TLR2 TLR10 TLR1
37 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.84 TLR6 TLR1 TIRAP
38 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 TLR6 TLR4 CD36
39 cellular response to lipoteichoic acid GO:0071223 9.83 TLR4 TLR2 TIRAP CD36 CD14
40 cell activation GO:0001775 9.82 TLR6 TLR2 TLR1
41 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.81 TLR6 TLR4 CD36
42 cellular response to diacyl bacterial lipopeptide GO:0071726 9.81 TLR6 TLR2 CD36 CD14
43 interleukin-1 beta secretion GO:0050702 9.8 TLR6 TLR4 CD36
44 cellular response to bacterial lipopeptide GO:0071221 9.8 TLR6 TLR2 TLR1 TIRAP CD36
45 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.79 TLR4 LY96 CD14
46 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.78 TLR2 TLR1 CD14
47 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.78 TLR6 TLR2 CD36 CD14
48 cellular response to triacyl bacterial lipopeptide GO:0071727 9.77 TLR2 TLR1 CD14
49 microglial cell activation GO:0001774 9.75 TLR6 TLR2
50 positive regulation of interferon-beta production GO:0032728 9.75 TLR4 TLR2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 identical protein binding GO:0042802 10.08 TLR6 TLR4 TLR2 TLR10 TLR1 TIRAP
3 transmembrane signaling receptor activity GO:0004888 9.91 TLR6 TLR5 TLR4 TLR10 TLR1
4 amyloid-beta binding GO:0001540 9.8 TLR6 TLR4 TLR2 CD36
5 signaling receptor activity GO:0038023 9.8 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
6 lipopolysaccharide binding GO:0001530 9.71 TLR4 TLR2 LY96 CD14
7 interleukin-1 receptor binding GO:0005149 9.63 TLR5 MYD88 IRAK4
8 Toll-like receptor binding GO:0035325 9.61 TLR2 MYD88 CD36
9 lipopolysaccharide receptor activity GO:0001875 9.54 TLR4 TLR2 LY96
10 Toll-like receptor 4 binding GO:0035662 9.52 TIRAP LY96
11 lipopeptide binding GO:0071723 9.46 TLR6 TLR2 TLR1 CD14
12 Toll-like receptor 2 binding GO:0035663 9.43 TLR6 TLR1 TIRAP
13 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.35 TLR6 TLR4 TLR2 TLR10 TLR1
14 NAD(P)+ nucleosidase activity GO:0050135 9.02 TLR6 TLR4 TLR2 TLR10 TLR1

Sources for Irak4 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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