IRAK4D
MCID: IRK001
MIFTS: 50

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 29 13 6 39 71
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 25 71
Irak-4 Deficiency 52 25
Irak4d 56 73
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 58
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 interleukin-1 receptor-associated kinase 4 deficiency, is related to peritonitis and meningitis. 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 125)
# Related Disease Score Top Affiliating Genes
1 peritonitis 29.6 TLR4 TLR2 CD14
2 meningitis 29.5 TLR4 TLR2 IRAK4 BTK
3 bacterial infectious disease 27.8 TLR5 TLR4 TLR2 TLR1 MYD88 IRAK4
4 leukocyte adhesion deficiency, type i 11.3
5 invasive pneumococcal disease, recurrent isolated, 1 10.3 TIRAP IRAK4
6 waldenstroem's macroglobulinemia 10.3 MYD88 BTK
7 cataract 30 10.2 MYD88 LY96
8 mycobacterium chelonae 10.2 TLR2 CD14
9 pneumococcal meningitis 10.2
10 mycobacterium kansasii 10.2 TLR2 CD14
11 acute cervicitis 10.1 TLR2 LY96
12 lymphadenitis 10.1
13 pericarditis 10.1
14 pleural empyema 10.1
15 neutrophil migration 10.1
16 immune deficiency disease 10.1
17 hyper ige syndrome 10.1
18 juvenile rheumatoid arthritis 10.1
19 arthritis 10.1
20 lung disease 10.1
21 mycobacterium abscessus 10.0 TLR2 TLR1
22 dilated cardiomyopathy 10.0
23 acute pericementitis 10.0 TLR6 TLR2
24 prosthetic joint infection 9.9 TLR4 TLR2
25 cervicitis 9.9 TLR4 TLR2
26 fungal keratitis 9.9 TLR4 TLR2
27 platelet glycoprotein iv deficiency 9.9 TLR4 CD36
28 neisseria meningitidis infection 9.9 TLR4 TLR2
29 spondylarthropathy 9.9 TLR4 TLR2
30 pneumonic plague 9.8 TLR4 TLR2
31 ocular toxoplasmosis 9.8 TLR5 TLR1
32 dental pulp disease 9.8 TLR4 TLR2
33 bubonic plague 9.8 TLR4 TLR2
34 gastrointestinal tularemia 9.8 TLR4 TLR2 MYD88
35 pertussis 9.8 TLR4 TIRAP MYD88
36 tularemia 9.8 TLR4 TLR2 MYD88
37 pneumonic tularemia 9.8 TLR4 TLR2 MYD88
38 silo filler's disease 9.8 TLR4 TLR2 MYD88
39 meningococcal meningitis 9.8 TLR4 TLR2
40 neurosyphilis 9.8 TLR6 TLR2 TLR1
41 listeriosis 9.8 TLR4 TLR2 MYD88
42 urethritis 9.8 TLR4 TLR2
43 paracoccidioidomycosis 9.8 TLR4 TLR2 MYD88
44 alveolar echinococcosis 9.7 TLR4 TLR2 CD36
45 lyme disease 9.7 TLR6 TLR2 TLR1
46 filarial elephantiasis 9.7 TLR4 TLR2
47 anus disease 9.6 TLR4 TLR2 TLR1
48 toxic pneumonitis 9.6 TLR6 TLR4 TLR10
49 testicular disease 9.6 TLR4 TLR2 TLR1
50 allergic asthma 9.6 TLR4 TLR2 CD14

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 staphylococcal infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0007499
4 recurrent streptococcus pneumoniae infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005366
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 Irak4 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 21)
# Title Authors PMID Year
1
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. 56 6
17878374 2007
2
Pyogenic bacterial infections in humans with IRAK-4 deficiency. 56 6
12637671 2003
3
Interleukin 12 deficiency associated with recurrent infections. 56 6
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
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
29531937 2018
10
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. 61
28702714 2017
11
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
28503543 2017
12
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. 61
26825884 2016
13
Interleukin-1 receptor-associated kinase-4 (IRAK4) promotes inflammatory osteolysis by activating osteoclasts and inhibiting formation of foreign body giant cells. 61
25404736 2015
14
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. 61
26884959 2015
15
A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival. 61
24973222 2014
16
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 61
24316379 2014
17
IRAK4 turns IL-10+ phospho-FOXO+ monocytes into pro-inflammatory cells by suppression of protein kinase B. 61
23519847 2013
18
Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity. 61
20105294 2010
19
Flow cytometric investigation of neutrophil oxidative burst and apoptosis in physiological and pathological situations. 61
19358285 2009
20
Recurrent systemic pneumococcal disease and IRAK4 deficiency. 61
17984826 2007
21
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 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRAK4 NM_016123.3(IRAK4):c.821del (p.Leu274fs)deletion Pathogenic 3838 rs1565678077 12:44171537-44171537 12:43777734-43777734
2 IRAK4 NM_016123.3(IRAK4):c.877C>T (p.Gln293Ter)SNV Pathogenic 3839 rs121908002 12:44172041-44172041 12:43778238-43778238
3 IRAK4 IRAK4, 2-BP DEL, 620ACdeletion Pathogenic 3840
4 IRAK4 NM_016123.3(IRAK4):c.831+5G>TSNV Pathogenic 30610 rs758539498 12:44171552-44171552 12:43777749-43777749
5 IRAK4 NM_001145256.1(IRAK4):c.-65-898deldeletion Pathogenic 464933 rs1555167566 12:44165082-44165082 12:43771279-43771279
6 IRAK4 NM_016123.3(IRAK4):c.547C>T (p.Arg183Ter)SNV Pathogenic 567326 rs114951157 12:44166771-44166771 12:43772968-43772968
7 IRAK4 NM_016123.3(IRAK4):c.88G>T (p.Glu30Ter)SNV Pathogenic 533523 rs1443126481 12:44162002-44162002 12:43768199-43768199
8 IRAK4 NC_000012.11:g.(?_44177445)_(44180538_?)deldeletion Likely pathogenic 464931 12:44177445-44180538
9 IRAK4 NM_016123.3(IRAK4):c.717-1G>TSNV Likely pathogenic 464935 rs1555169270 12:44171432-44171432 12:43777629-43777629
10 IRAK4 NM_016123.3(IRAK4):c.34C>T (p.Arg12Cys)SNV Likely pathogenic 30609 rs377584435 12:44161948-44161948 12:43768145-43768145
11 IRAK4 NM_016123.3(IRAK4):c.720T>C (p.Cys240=)SNV Conflicting interpretations of pathogenicity 308729 rs144854858 12:44171436-44171436 12:43777633-43777633
12 IRAK4 NM_016123.3(IRAK4):c.742C>T (p.Leu248=)SNV Conflicting interpretations of pathogenicity 308730 rs375755560 12:44171458-44171458 12:43777655-43777655
13 IRAK4 NM_016123.3(IRAK4):c.318C>G (p.Pro106=)SNV Conflicting interpretations of pathogenicity 308725 rs56338336 12:44165993-44165993 12:43772190-43772190
14 IRAK4 NM_001114182.2(IRAK4):c.*81_*83CTT[1]short repeat Uncertain significance 308734 rs886049388 12:44180597-44180599 12:43786794-43786796
15 IRAK4 NM_016123.3(IRAK4):c.*574C>TSNV Uncertain significance 308739 rs886049389 12:44181092-44181092 12:43787289-43787289
16 IRAK4 NM_016123.3(IRAK4):c.*1162T>GSNV Uncertain significance 308746 rs886049392 12:44181680-44181680 12:43787877-43787877
17 IRAK4 NM_016123.3(IRAK4):c.*1272G>TSNV Uncertain significance 308747 rs182497864 12:44181790-44181790 12:43787987-43787987
18 IRAK4 NM_016123.3(IRAK4):c.*1668C>GSNV Uncertain significance 308751 rs576135948 12:44182186-44182186 12:43788383-43788383
19 IRAK4 NM_016123.3(IRAK4):c.*1777A>TSNV Uncertain significance 308753 rs4251554 12:44182295-44182295 12:43788492-43788492
20 IRAK4 NM_016123.3(IRAK4):c.290C>T (p.Ala97Val)SNV Uncertain significance 533521 rs764597369 12:44165151-44165151 12:43771348-43771348
21 IRAK4 NM_016123.3(IRAK4):c.229A>G (p.Thr77Ala)SNV Uncertain significance 533525 rs1555167569 12:44165090-44165090 12:43771287-43771287
22 IRAK4 NM_016123.3(IRAK4):c.938A>C (p.Lys313Thr)SNV Uncertain significance 533522 rs1555169543 12:44172102-44172102 12:43778299-43778299
23 IRAK4 NM_016123.3(IRAK4):c.*2076C>TSNV Uncertain significance 308760 rs886049395 12:44182594-44182594 12:43788791-43788791
24 IRAK4 NM_016123.3(IRAK4):c.*2471G>ASNV Uncertain significance 308766 rs886049396 12:44182989-44182989 12:43789186-43789186
25 IRAK4 NM_016123.3(IRAK4):c.*2563G>ASNV Uncertain significance 308767 rs756483703 12:44183081-44183081 12:43789278-43789278
26 IRAK4 NM_016123.3(IRAK4):c.691G>A (p.Asp231Asn)SNV Uncertain significance 533526 rs111935971 12:44167807-44167807 12:43774004-43774004
27 IRAK4 NM_016123.3(IRAK4):c.783A>G (p.Val261=)SNV Uncertain significance 533524 rs1465941653 12:44171499-44171499 12:43777696-43777696
28 IRAK4 NM_016123.3(IRAK4):c.1148G>A (p.Gly383Glu)SNV Uncertain significance 571564 rs755772831 12:44177487-44177487 12:43783684-43783684
29 IRAK4 NM_016123.3(IRAK4):c.529A>G (p.Thr177Ala)SNV Uncertain significance 574442 rs141209982 12:44166753-44166753 12:43772950-43772950
30 IRAK4 NM_016123.3(IRAK4):c.376C>T (p.Pro126Ser)SNV Uncertain significance 577357 rs1379851408 12:44166051-44166051 12:43772248-43772248
31 IRAK4 NM_016123.3(IRAK4):c.35G>A (p.Arg12His)SNV Uncertain significance 638849 12:44161949-44161949 12:43768146-43768146
32 IRAK4 NM_016123.3(IRAK4):c.113C>G (p.Ala38Gly)SNV Uncertain significance 639567 12:44162027-44162027 12:43768224-43768224
33 IRAK4 NM_016123.3(IRAK4):c.479T>A (p.Val160Asp)SNV Uncertain significance 643876 12:44166154-44166154 12:43772351-43772351
34 IRAK4 NM_016123.3(IRAK4):c.670G>A (p.Glu224Lys)SNV Uncertain significance 651077 12:44167786-44167786 12:43773983-43773983
35 IRAK4 NM_016123.3(IRAK4):c.1063A>C (p.Met355Leu)SNV Uncertain significance 649132 12:44176231-44176231 12:43782428-43782428
36 IRAK4 NM_016123.3(IRAK4):c.1291T>G (p.Ser431Ala)SNV Uncertain significance 644295 12:44180304-44180304 12:43786501-43786501
37 IRAK4 NM_016123.3(IRAK4):c.1371G>A (p.Met457Ile)SNV Uncertain significance 651127 12:44180506-44180506 12:43786703-43786703
38 IRAK4 NM_016123.3(IRAK4):c.652-3deldeletion Uncertain significance 658644 12:44167765-44167765 12:43773962-43773962
39 IRAK4 NM_016123.3(IRAK4):c.1126-9T>ASNV Uncertain significance 649673 12:44177456-44177456 12:43783653-43783653
40 IRAK4 NM_016123.3(IRAK4):c.1191A>G (p.Leu397=)SNV Uncertain significance 308731 rs773095217 12:44180204-44180204 12:43786401-43786401
41 IRAK4 NM_016123.3(IRAK4):c.*281A>GSNV Uncertain significance 308737 rs4251548 12:44180799-44180799 12:43786996-43786996
42 IRAK4 NM_016123.3(IRAK4):c.*1028T>CSNV Uncertain significance 308743 rs886049390 12:44181546-44181546 12:43787743-43787743
43 IRAK4 NM_016123.3(IRAK4):c.*2198T>CSNV Uncertain significance 308763 rs563217241 12:44182716-44182716 12:43788913-43788913
44 IRAK4 NM_016123.3(IRAK4):c.*2817A>GSNV Uncertain significance 308771 rs4251564 12:44183335-44183335 12:43789532-43789532
45 IRAK4 NM_016123.3(IRAK4):c.-75C>TSNV Uncertain significance 308721 rs886049382 12:44152754-44152754 12:43758951-43758951
46 IRAK4 NM_016123.3(IRAK4):c.-16C>GSNV Uncertain significance 308724 rs886049384 12:44152813-44152813 12:43759010-43759010
47 IRAK4 NM_016123.3(IRAK4):c.*1115G>TSNV Uncertain significance 308744 rs886049391 12:44181633-44181633 12:43787830-43787830
48 IRAK4 NM_016123.3(IRAK4):c.*1161G>ASNV Uncertain significance 308745 rs545334973 12:44181679-44181679 12:43787876-43787876
49 IRAK4 NM_016123.3(IRAK4):c.*1325G>ASNV Uncertain significance 308749 rs139778399 12:44181843-44181843 12:43788040-43788040
50 IRAK4 NM_016123.3(IRAK4):c.*1999dupduplication Uncertain significance 308758 rs886049394 12:44182509-44182510 12:43788706-43788707

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2
Show member pathways
13.66 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
3
Show member pathways
13.49 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
4
Show member pathways
13.46 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
5
Show member pathways
13.44 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
6
Show member pathways
13.25 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
7
Show member pathways
12.79 TLR4 TLR2 MYD88 IRAK4 BTK
8
Show member pathways
12.77 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
9
Show member pathways
12.74 TLR4 TIRAP MYD88 LY96 CD14
10
Show member pathways
12.67 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
11 12.62 TLR6 TLR2 TLR1 MYD88 IRAK4 BTK
12
Show member pathways
12.59 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
13
Show member pathways
12.54 TLR4 TLR2 TIRAP MYD88
14
Show member pathways
12.4 TLR5 TLR4 LY96 CD14
15
Show member pathways
12.4 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
16
Show member pathways
12.39 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
17 12.36 TLR5 TLR4 MYD88 CD14
18 12.36 TLR5 TLR4 TIRAP MYD88 IRAK4
19
Show member pathways
12.33 TLR4 TLR2 MYD88 LY96 IRAK4
20
Show member pathways
12.31 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
21 12.3 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
22
Show member pathways
12.29 TLR4 LY96 CD14 BTK
23
Show member pathways
12.29 TLR5 TLR2 TIRAP MYD88 IRAK4
24 12.29 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
25
Show member pathways
12.24 TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
26 12.21 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
12.14 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
30
Show member pathways
12.14 TLR6 TLR4 TLR2 TLR1 LY96 CD36
31 12.01 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
32 11.95 TLR4 MYD88 IRAK4
33
Show member pathways
11.94 TLR4 MYD88 LY96 CD14
34 11.94 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
35 11.88 TLR4 TLR2 CD14
36 11.88 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
37 11.87 TLR5 TLR4 MYD88 CD14
38 11.84 TLR4 MYD88 LY96 IRAK4 CD14 BTK
39 11.75 TLR5 TLR4 TLR2 MYD88 CD14
40
Show member pathways
11.71 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
41 11.68 TIRAP MYD88 IRAK4
42 11.68 TLR4 MYD88 LY96 CD14
43 11.64 TLR4 TLR2 MYD88 CD36
44 11.43 TLR4 LY96 CD36 CD14
45 11.25 TLR2 TLR1 MYD88
46 11.23 TLR4 LY96 CD14
47 11.02 TLR2 MYD88
48 10.91 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 74)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.32 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 immune response GO:0006955 10.15 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 10.06 TIRAP MYD88 LY96 CD36 CD14
5 response to lipopolysaccharide GO:0032496 10.03 TLR4 TLR2 TIRAP LY96 CD14
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.03 TLR6 TLR4 TIRAP MYD88 IRAK4 CD36
7 defense response to bacterium GO:0042742 10.02 TLR6 TLR5 TLR4 MYD88
8 cellular response to lipopolysaccharide GO:0071222 10.02 TLR5 TLR4 MYD88 LY96 CD36 CD14
9 inflammatory response GO:0006954 10.02 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
10 positive regulation of NF-kappaB transcription factor activity GO:0051092 10 TLR6 TLR4 TLR2 TIRAP MYD88 CD36
11 immune system process GO:0002376 10 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
12 defense response to Gram-positive bacterium GO:0050830 9.99 TLR2 TIRAP MYD88 CD36
13 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 TLR4 LY96 CD14 BTK
14 apoptotic signaling pathway GO:0097190 9.95 TLR4 LY96 CD14 BTK
15 positive regulation of interleukin-6 production GO:0032755 9.94 TLR4 TLR2 MYD88 CD36
16 positive regulation of nitric oxide biosynthetic process GO:0045429 9.92 TLR6 TLR5 TLR4 CD36
17 response to bacterium GO:0009617 9.91 TLR4 CD36 CD14
18 positive regulation of tumor necrosis factor production GO:0032760 9.91 TLR4 TLR2 TIRAP LY96 CD36 CD14
19 positive regulation of inflammatory response GO:0050729 9.9 TLR4 TLR2 TLR10
20 cellular response to mechanical stimulus GO:0071260 9.9 TLR5 TLR4 MYD88
21 lipopolysaccharide-mediated signaling pathway GO:0031663 9.9 TLR4 TLR2 LY96 CD14
22 toll-like receptor signaling pathway GO:0002224 9.9 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
23 phagocytosis GO:0006909 9.89 TLR4 MYD88 CD14
24 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 TLR4 TLR2 CD14
25 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.89 TLR6 TLR4 LY96 CD14
26 positive regulation of interleukin-8 production GO:0032757 9.89 TLR5 TLR4 TLR2 TIRAP MYD88
27 cellular response to amyloid-beta GO:1904646 9.88 TLR6 TLR4 CD36
28 positive regulation of interleukin-12 production GO:0032735 9.88 TLR4 TLR2 TIRAP CD36
29 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.86 TLR6 TLR4 MYD88
30 necroptotic process GO:0070266 9.85 TLR4 LY96 CD14
31 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.85 TLR4 LY96 CD14
32 toll-like receptor 4 signaling pathway GO:0034142 9.85 TLR4 LY96 CD14
33 positive regulation of interleukin-8 secretion GO:2000484 9.84 TLR4 TLR2 TLR1 CD14
34 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.83 TLR6 TLR1 TIRAP
35 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 TLR6 TLR4 CD36
36 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.83 TLR6 TLR4 MYD88 CD36
37 cell activation GO:0001775 9.82 TLR6 TLR2 TLR1
38 cellular response to diacyl bacterial lipopeptide GO:0071726 9.81 TLR6 TLR2 CD36 CD14
39 interleukin-1 beta secretion GO:0050702 9.8 TLR6 TLR4 CD36
40 regulation of cytokine secretion GO:0050707 9.8 TLR6 TLR5 TLR2 TLR10 TLR1
41 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.79 TLR6 TLR4 CD36
42 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.79 TLR4 LY96 CD14
43 cellular response to bacterial lipopeptide GO:0071221 9.78 TLR2 TIRAP CD36
44 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.78 TLR6 TLR2 CD36 CD14
45 cellular response to lipoteichoic acid GO:0071223 9.77 TLR4 TLR2 TIRAP CD36 CD14
46 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.76 TLR2 TLR1 CD14
47 microglial cell activation GO:0001774 9.75 TLR6 TLR2
48 positive regulation of interferon-beta production GO:0032728 9.75 TLR4 TLR2
49 positive regulation of interleukin-10 production GO:0032733 9.75 TLR4 TLR2
50 3'-UTR-mediated mRNA stabilization GO:0070935 9.74 TIRAP MYD88

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 identical protein binding GO:0042802 9.97 TLR6 TLR4 TLR2 TLR10 TLR1 TIRAP
3 protein heterodimerization activity GO:0046982 9.88 TLR6 TLR4 TLR2 TLR1 TIRAP
4 signaling receptor activity GO:0038023 9.8 TLR6 TLR4 TLR2 TLR1
5 transmembrane signaling receptor activity GO:0004888 9.8 TLR6 TLR5 TLR4 TLR10 TLR1
6 amyloid-beta binding GO:0001540 9.73 TLR6 TLR4 TLR2 CD36
7 lipopolysaccharide binding GO:0001530 9.56 TLR4 TLR2 LY96 CD14
8 interleukin-1 receptor binding GO:0005149 9.52 TLR5 IRAK4
9 Toll-like receptor binding GO:0035325 9.5 TLR2 MYD88 CD36
10 Toll-like receptor 4 binding GO:0035662 9.46 TIRAP LY96
11 lipopolysaccharide receptor activity GO:0001875 9.33 TLR4 TLR2 LY96
12 Toll-like receptor 2 binding GO:0035663 9.13 TLR6 TLR1 TIRAP
13 lipopeptide binding GO:0071723 8.92 TLR6 TLR2 TLR1 CD14

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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