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IRAK4D
MCID: IRK001
MIFTS: 51

Irak4 Deficiency (IRAK4D)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Irak4 Deficiency

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MalaCards integrated aliases for Irak4 Deficiency:

Name: Irak4 Deficiency 57 53 25 59 74 29 13 6 40 72
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 25 72
Irak-4 Deficiency 53 25
Irak4d 57 74
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 59
Interleukin Receptor-Associated Kinase Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 607676
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 73 C1843256
Orphanet 59 ORPHA70592
MedGen 42 C1843256
UMLS 72 C1843256 C3697183
Sources

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. 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 bacterial infectious disease and leukocyte adhesion deficiency, type i. 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 brain, skin and eye, and related phenotypes are immunodeficiency and neutropenia

NIH Rare Diseases : 53 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 : 57 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 : 74 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Wikipedia : 75 IRAK-4 (interleukin-1 receptor-associated kinase 4), in the IRAK family, is a protein kinase involved in... more...

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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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 bacterial infectious disease 28.1 TLR5 TLR4 TLR2 TLR1 MYD88 IRAK4
2 leukocyte adhesion deficiency, type i 11.3
3 invasive pneumococcal disease, recurrent isolated, 1 10.5 TIRAP IRAK4
4 waldenstroem's macroglobulinemia 10.5 MYD88 BTK
5 plasma protein metabolism disease 10.4 MYD88 BTK
6 pleuropneumonia 10.4 MYD88 IRAK4
7 mycobacterium chelonae 10.3 TLR2 CD14
8 mycobacterium kansasii 10.3 TLR2 CD14
9 pneumococcal meningitis 10.2
10 urethritis 10.1 TLR6 TLR1
11 mycobacterium abscessus 10.1 TLR2 TLR1
12 lymphadenitis 10.1
13 pericarditis 10.1
14 pleural empyema 10.1
15 peritonitis 10.1
16 meningitis 10.1
17 neutrophil migration 10.1
18 immune deficiency disease 10.1
19 hyper ige syndrome 10.1
20 juvenile rheumatoid arthritis 10.1
21 arthritis 10.1
22 lung disease 10.1
23 mesenteric lymphadenitis 10.1 TLR2 MYD88
24 dilated cardiomyopathy 10.0
25 prosthetic joint infection 10.0 TLR4 TLR2
26 trench fever 10.0 TLR4 TLR2
27 fungal keratitis 9.9 TLR4 TLR2
28 acute cervicitis 9.9 TLR4 TLR2
29 ocular toxoplasmosis 9.8 TLR5 TLR1
30 spondylarthropathy 9.8 TLR4 TLR2
31 neisseria meningitidis infection 9.8 TLR4 TLR2
32 ariboflavinosis 9.8 TLR6 TLR4
33 bacteriuria 9.8 TLR4 TLR1 TIRAP
34 myositis fibrosa 9.8 TLR4 TLR2 MYD88
35 paracoccidioidomycosis 9.8 TLR4 TLR2 MYD88
36 neurosyphilis 9.7 TLR6 TLR2 TLR1
37 toxoplasmosis 9.7 TLR4 TLR2 MYD88
38 niemann-pick disease, type c2 9.7 TLR4 LY96
39 alveolar echinococcosis 9.7 TLR4 TLR2 CD36
40 lyme disease 9.7 TLR6 TLR2 TLR1
41 mycobacterium tuberculosis 1 9.4 TLR4 TLR2 TLR1 MYD88
42 scrub typhus 9.4 TLR4 TLR2
43 suppurative otitis media 9.3 TLR5 TLR4 TLR2
44 septic arthritis 9.2 TLR5 TLR4 TLR2
45 ileitis 9.2 TLR5 TLR4 TLR2
46 q fever 9.2 TLR4 TLR2 TLR10 TLR1
47 penicilliosis 9.2 TLR6 TLR4 TLR2 TLR1
48 pneumonia 9.2 TLR5 TLR4 TLR2
49 invasive aspergillosis 9.2 TLR6 TLR4 TLR2 TLR1
50 filariasis 9.2 TLR6 TLR4 TLR2 TLR1

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



Diseases related to Irak4 Deficiency
Sources

Symptoms & Phenotypes for Irak4 Deficiency

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Human phenotypes related to Irak4 Deficiency:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
3 recurrent streptococcus pneumoniae infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005366
4 recurrent staphylococcal infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0007499
5 recurrent bacterial infections 59 Very frequent (99-80%)

Clinical features from OMIM:

607676

MGI Mouse Phenotypes related to Irak4 Deficiency:

46
# 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
Sources

Drugs & Therapeutics for Irak4 Deficiency

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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

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Genetic Tests for Irak4 Deficiency

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Genetic tests related to Irak4 Deficiency:

# Genetic test Affiliating Genes
1 Irak4 Deficiency 29 IRAK4
Sources

Anatomical Context for Irak4 Deficiency

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MalaCards organs/tissues related to Irak4 Deficiency:

41
Brain, Skin, Eye, Spinal Cord, T Cells, Neutrophil, Myeloid
Sources

Publications for Irak4 Deficiency

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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. 8 71
17878374 2007
2
Pyogenic bacterial infections in humans with IRAK-4 deficiency. 8 71
12637671 2003
3
Interleukin 12 deficiency associated with recurrent infections. 8 71
9789052 1998
4
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 8
19414794 2009
5
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. 8
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. 71
17114497 2006
7
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. 8
15069404 2004
8
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. 71
12925671 2003
9
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 38
29531937 2018
10
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. 38
28702714 2017
11
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 38
28503543 2017
12
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. 38
26825884 2016
13
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. 38
26884959 2015
14
Interleukin-1 receptor-associated kinase-4 (IRAK4) promotes inflammatory osteolysis by activating osteoclasts and inhibiting formation of foreign body giant cells. 38
25404736 2015
15
A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival. 38
24973222 2014
16
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 38
24316379 2014
17
IRAK4 turns IL-10+ phospho-FOXO+ monocytes into pro-inflammatory cells by suppression of protein kinase B. 38
23519847 2013
18
Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity. 38
20105294 2010
19
Flow cytometric investigation of neutrophil oxidative burst and apoptosis in physiological and pathological situations. 38
19358285 2009
20
Recurrent systemic pneumococcal disease and IRAK4 deficiency. 38
17984826 2007
21
Towards subtlety: understanding the role of Toll-like receptor signaling in susceptibility to human infections. 38
16563867 2006
Sources

Variations for Irak4 Deficiency

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ClinVar genetic disease variations for Irak4 Deficiency:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IRAK4 NM_016123.3(IRAK4): c.224del (p.Gly75fs) deletion Pathogenic rs1555167566 12:44165085-44165085 12:43771282-43771282
2 IRAK4 NM_016123.3(IRAK4): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic rs1443126481 12:44162002-44162002 12:43768199-43768199
3 IRAK4 NM_016123.3(IRAK4): c.821del (p.Leu274fs) deletion Pathogenic 12:44171537-44171537 12:43777734-43777734
4 IRAK4 NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs121908002 12:44172041-44172041 12:43778238-43778238
5 IRAK4 IRAK4, 2-BP DEL, 620AC deletion Pathogenic
6 IRAK4 NM_016123.3(IRAK4): c.831+5G> T single nucleotide variant Pathogenic 12:44171552-44171552 12:43777749-43777749
7 IRAK4 NM_016123.3(IRAK4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic 12:44166771-44166771 12:43772968-43772968
8 IRAK4 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Likely pathogenic rs377584435 12:44161948-44161948 12:43768145-43768145
9 IRAK4 NM_016123.3(IRAK4): c.717-1G> T single nucleotide variant Likely pathogenic rs1555169270 12:44171432-44171432 12:43777629-43777629
10 IRAK4 NC_000012.11: g.(?_44177445)_(44180538_?)del deletion Likely pathogenic 12:44177445-44180538 :0-0
11 IRAK4 NM_016123.3(IRAK4): c.318C> G (p.Pro106=) single nucleotide variant Conflicting interpretations of pathogenicity rs56338336 12:44165993-44165993 12:43772190-43772190
12 IRAK4 NM_016123.3(IRAK4): c.720T> C (p.Cys240=) single nucleotide variant Conflicting interpretations of pathogenicity rs144854858 12:44171436-44171436 12:43777633-43777633
13 IRAK4 NM_016123.3(IRAK4): c.742C> T (p.Leu248=) single nucleotide variant Uncertain significance rs375755560 12:44171458-44171458 12:43777655-43777655
14 IRAK4 NM_016123.3(IRAK4): c.1191A> G (p.Leu397=) single nucleotide variant Uncertain significance rs773095217 12:44180204-44180204 12:43786401-43786401
15 IRAK4 NM_016123.3(IRAK4): c.1347+13delT deletion Uncertain significance rs751119487 12:44180373-44180373 12:43786570-43786570
16 IRAK4 NM_016123.3(IRAK4): c.*281A> G single nucleotide variant Uncertain significance rs4251548 12:44180799-44180799 12:43786996-43786996
17 IRAK4 NM_016123.3(IRAK4): c.*1028T> C single nucleotide variant Uncertain significance rs886049390 12:44181546-44181546 12:43787743-43787743
18 IRAK4 NM_016123.3(IRAK4): c.*520T> A single nucleotide variant Uncertain significance rs4251550 12:44181038-44181038 12:43787235-43787235
19 IRAK4 NM_016123.3(IRAK4): c.-66G> A single nucleotide variant Uncertain significance rs570128219 12:44152763-44152763 12:43758960-43758960
20 IRAK4 NM_016123.3(IRAK4): c.526G> T (p.Val176Phe) single nucleotide variant Uncertain significance rs886049385 12:44166750-44166750 12:43772947-43772947
21 IRAK4 NM_016123.3(IRAK4): c.*2198T> C single nucleotide variant Uncertain significance rs563217241 12:44182716-44182716 12:43788913-43788913
22 IRAK4 NM_016123.3(IRAK4): c.*2817A> G single nucleotide variant Uncertain significance rs4251564 12:44183335-44183335 12:43789532-43789532
23 IRAK4 NM_016123.3(IRAK4): c.-75C> T single nucleotide variant Uncertain significance rs886049382 12:44152754-44152754 12:43758951-43758951
24 IRAK4 NM_016123.3(IRAK4): c.-16C> G single nucleotide variant Uncertain significance rs886049384 12:44152813-44152813 12:43759010-43759010
25 IRAK4 NM_016123.3(IRAK4): c.*81_*83CTT[1] short repeat Uncertain significance rs886049388 12:44180602-44180604 12:43786799-43786801
26 IRAK4 NM_016123.3(IRAK4): c.*574C> T single nucleotide variant Uncertain significance rs886049389 12:44181092-44181092 12:43787289-43787289
27 IRAK4 NM_016123.3(IRAK4): c.*1162T> G single nucleotide variant Uncertain significance rs886049392 12:44181680-44181680 12:43787877-43787877
28 IRAK4 NM_016123.3(IRAK4): c.*1272G> T single nucleotide variant Uncertain significance rs182497864 12:44181790-44181790 12:43787987-43787987
29 IRAK4 NM_016123.3(IRAK4): c.*1668C> G single nucleotide variant Uncertain significance rs576135948 12:44182186-44182186 12:43788383-43788383
30 IRAK4 NM_016123.3(IRAK4): c.*1777A> T single nucleotide variant Uncertain significance rs4251554 12:44182295-44182295 12:43788492-43788492
31 IRAK4 NM_016123.3(IRAK4): c.35G> A (p.Arg12His) single nucleotide variant Uncertain significance 12:44161949-44161949 12:43768146-43768146
32 IRAK4 NM_016123.3(IRAK4): c.113C> G (p.Ala38Gly) single nucleotide variant Uncertain significance 12:44162027-44162027 12:43768224-43768224
33 IRAK4 NM_016123.3(IRAK4): c.479T> A (p.Val160Asp) single nucleotide variant Uncertain significance 12:44166154-44166154 12:43772351-43772351
34 IRAK4 NM_016123.3(IRAK4): c.670G> A (p.Glu224Lys) single nucleotide variant Uncertain significance 12:44167786-44167786 12:43773983-43773983
35 IRAK4 NM_016123.3(IRAK4): c.1063A> C (p.Met355Leu) single nucleotide variant Uncertain significance 12:44176231-44176231 12:43782428-43782428
36 IRAK4 NM_016123.3(IRAK4): c.1291T> G (p.Ser431Ala) single nucleotide variant Uncertain significance 12:44180304-44180304 12:43786501-43786501
37 IRAK4 NM_016123.3(IRAK4): c.1371G> A (p.Met457Ile) single nucleotide variant Uncertain significance 12:44180506-44180506 12:43786703-43786703
38 IRAK4 NM_016123.3(IRAK4): c.652-3del deletion Uncertain significance 12:44167765-44167765 12:43773962-43773962
39 IRAK4 NM_016123.3(IRAK4): c.1126-9T> A single nucleotide variant Uncertain significance 12:44177456-44177456 12:43783653-43783653
40 IRAK4 NM_016123.3(IRAK4): c.229A> G (p.Thr77Ala) single nucleotide variant Uncertain significance rs1555167569 12:44165090-44165090 12:43771287-43771287
41 IRAK4 NM_016123.3(IRAK4): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs111935971 12:44167807-44167807 12:43774004-43774004
42 IRAK4 NM_016123.3(IRAK4): c.783A> G (p.Val261=) single nucleotide variant Uncertain significance rs1465941653 12:44171499-44171499 12:43777696-43777696
43 IRAK4 NM_016123.3(IRAK4): c.938A> C (p.Lys313Thr) single nucleotide variant Uncertain significance rs1555169543 12:44172102-44172102 12:43778299-43778299
44 IRAK4 NM_016123.3(IRAK4): c.-54G> A single nucleotide variant Uncertain significance rs886049383 12:44152775-44152775 12:43758972-43758972
45 IRAK4 NM_016123.3(IRAK4): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886049386 12:44167829-44167829 12:43774026-43774026
46 IRAK4 NM_016123.3(IRAK4): c.*989T> G single nucleotide variant Uncertain significance rs4251584 12:44181507-44181507 12:43787704-43787704
47 IRAK4 NM_016123.3(IRAK4): c.*1306C> T single nucleotide variant Uncertain significance rs770097373 12:44181824-44181824 12:43788021-43788021
48 IRAK4 NM_016123.3(IRAK4): c.*1435T> G single nucleotide variant Uncertain significance rs886049393 12:44181953-44181953 12:43788150-43788150
49 IRAK4 NM_016123.3(IRAK4): c.290C> T (p.Ala97Val) single nucleotide variant Uncertain significance rs764597369 12:44165151-44165151 12:43771348-43771348
50 IRAK4 NM_016123.3(IRAK4): c.*1974G> A single nucleotide variant Uncertain significance rs12321678 12:44182492-44182492 12:43788689-43788689

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

74
# Symbol AA change Variation ID SNP ID
1 IRAK4 p.Arg12Cys VAR_072888 rs377584435
2 IRAK4 p.Gly298Asp VAR_072892 rs568782766

Sources

Expression for Irak4 Deficiency

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Search GEO for disease gene expression data for Irak4 Deficiency.
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Pathways for Irak4 Deficiency

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.02 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2
HIV Life Cycle 66
Show member pathways
 13.68 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
3
Activated TLR4 signalling 66
Show member pathways
 13.53 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
4
Class I MHC mediated antigen processing and presentation 66
Show member pathways
 13.49 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
5
Akt Signaling 64
Show member pathways
 13.44 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
6
IL-2 Pathway 64
Show member pathways
 13.26 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
7
Human cytomegalovirus infection 37
Show member pathways
 12.89 TLR4 TLR2 TIRAP MYD88 IRAK4
8
NF-KappaB Family Pathway 64
Show member pathways
 12.78 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
9
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways 66
Show member pathways
 12.74 TLR4 TIRAP MYD88 LY96 CD14
10
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 12.67 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
11
NF-kappaB Signaling 4
12.63 TLR6 TLR2 TLR1 MYD88 IRAK4 BTK
12
Development FGFR signaling pathway 22
Show member pathways
 12.52 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
13
Antigen processing-Cross presentation 66
Show member pathways
 12.47 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
14
TRAF Pathway 64
Show member pathways
 12.47 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
15
VEGF Pathway (Qiagen) 64
Show member pathways
 12.41 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
16
Development Slit-Robo signaling 22
Show member pathways
 12.4 TLR5 TLR4 LY96 CD14
17
Toll Comparative Pathway 64
Show member pathways
 12.4 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
18
Toxoplasmosis 37
Show member pathways
 12.33 TLR4 TLR2 MYD88 LY96 IRAK4
19
IL-1 Family Signaling Pathways 65
Show member pathways
 12.3 TLR5 TLR2 TIRAP MYD88 IRAK4
20
Colorectal Cancer Metastasis 64
12.3 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
21
Regulation by c-FLIP 66
Show member pathways
 12.29 TLR4 LY96 CD14 BTK
22
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 12.29 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
23
Bacterial infections in CF airways 22
Show member pathways
 12.28 TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
24
Tuberculosis 37
12.26 TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
25
Phagosome 37
12.23 TLR6 TLR4 TLR2 CD36 CD14
26
Th1 Differentiation Pathway 65
Show member pathways
 12.17 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
27
MAPK Pathway 71
Show member pathways
 12.15 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
28
Microglia Activation During Neuroinflammation: Overview 65
Show member pathways
 12.12 TLR6 TLR4 TLR2 TLR1 LY96 CD36
29
NF-kappa B signaling pathway 37
12.01 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
30
Phagocytosis of Microbes 64
11.95 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
31
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.94 TLR4 MYD88 LY96 CD14
32
Salmonella infection (KEGG) 37
11.88 TLR5 TLR4 MYD88 CD14
33
Pertussis 37
11.88 TLR4 TIRAP MYD88 LY96 IRAK4 CD14
34
Amoebiasis 37
11.87 TLR4 TLR2 CD14
35
NF-kB (NFkB) Pathway 67
11.84 TLR4 MYD88 LY96 IRAK4 CD14 BTK
36
Legionellosis 37
11.74 TLR5 TLR4 TLR2 MYD88 CD14
37
Diseases associated with the TLR signaling cascade 66
Show member pathways
 11.71 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
38
AGE/RAGE pathway 1
11.68 TIRAP MYD88 IRAK4
39
Transcription_NF-kB signaling pathway 22
11.68 TLR4 MYD88 LY96 CD14
40
Malaria 37
11.63 TLR4 TLR2 MYD88 CD36
41
A-beta Pathways: Uptake and Degradation 65
11.43 TLR4 LY96 CD36 CD14
42
IL1 and megakaryocytes in obesity 1
11.25 TLR2 TLR1 MYD88
43
IKK complex recruitment mediated by RIP1 66
11.23 TLR4 LY96 CD14
44
NTHi-Induced Signaling 64
11.02 TLR2 MYD88
45
MIF Action Through Endocytic Pathway 64
10.91 TLR4 LY96 CD14
Sources

GO Terms for Irak4 Deficiency

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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 TLR6 TLR5 TLR4 TLR2 TLR10 TLR1
2 integral component of plasma membrane GO:0005887 9.91 TLR6 TLR4 TLR2 TLR10 TLR1 CD36
3 endosome membrane GO:0010008 9.65 TLR4 MYD88 LY96 IRAK4 CD14
4 phagocytic vesicle membrane GO:0030670 9.58 TLR6 TLR2 TLR1
5 intrinsic component of plasma membrane GO:0031226 9.54 TLR4 TLR2 LY96
6 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.32 TLR2 TLR1
7 lipopolysaccharide receptor complex GO:0046696 9.13 TLR4 LY96 CD14
8 membrane raft GO:0045121 9.1 TLR6 TLR2 TLR1 CD36 CD14 BTK

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 TLR2 TIRAP MYD88 CD36
2 apoptotic signaling pathway GO:0097190 9.96 TLR4 LY96 CD14 BTK
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 TLR4 LY96 CD14 BTK
4 positive regulation of tumor necrosis factor production GO:0032760 9.95 TLR4 TLR2 TIRAP MYD88 LY96 CD36
5 positive regulation of interleukin-6 production GO:0032755 9.94 TLR4 TLR2 MYD88 CD36
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.92 TLR6 TLR5 TLR4 CD36
7 lipopolysaccharide-mediated signaling pathway GO:0031663 9.92 TLR4 TLR2 MYD88 LY96 CD14
8 response to bacterium GO:0009617 9.91 TLR4 CD36 CD14
9 positive regulation of interleukin-8 production GO:0032757 9.91 TLR5 TLR4 TLR2 TIRAP MYD88
10 positive regulation of JNK cascade GO:0046330 9.9 TLR4 TIRAP MYD88
11 positive regulation of inflammatory response GO:0050729 9.9 TLR4 TLR2 TLR10
12 cellular response to mechanical stimulus GO:0071260 9.9 TLR5 TLR4 MYD88
13 positive regulation of interleukin-12 production GO:0032735 9.9 TLR4 TLR2 TIRAP CD36
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 TLR4 TLR2 CD14
15 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.89 TLR6 TLR4 LY96 CD14
16 cellular response to amyloid-beta GO:1904646 9.88 TLR6 TLR4 CD36
17 necroptotic process GO:0070266 9.85 TLR4 LY96 CD14
18 toll-like receptor 4 signaling pathway GO:0034142 9.85 TLR4 LY96 CD14
19 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.85 TLR6 TLR4 MYD88
20 cellular response to lipoteichoic acid GO:0071223 9.85 TLR4 TLR2 TIRAP CD36 CD14
21 toll-like receptor signaling pathway GO:0002224 9.85 TLR6 TLR4 TLR2 TLR10 TLR1 MYD88
22 positive regulation of interleukin-8 secretion GO:2000484 9.84 TLR2 TLR1 CD14
23 negative regulation of growth of symbiont in host GO:0044130 9.84 TIRAP MYD88 CD36
24 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.84 TLR6 TLR4 MYD88 CD36
25 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 TLR6 TLR4 CD36
26 cell activation GO:0001775 9.82 TLR6 TLR2 TLR1
27 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.81 TLR4 LY96 CD14
28 interleukin-1 beta secretion GO:0050702 9.8 TLR6 TLR4 CD36
29 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.8 TLR6 TLR2 CD36 CD14
30 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.79 TLR6 TLR4 CD36
31 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.79 TLR6 TLR1 TIRAP
32 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.78 TLR4 LY96 CD14
33 cellular response to diacyl bacterial lipopeptide GO:0071726 9.78 TLR6 TLR2 CD36 CD14
34 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.76 TLR2 TLR1 CD14
35 positive regulation of interferon-beta production GO:0032728 9.75 TLR4 TLR2
36 positive regulation of interleukin-10 production GO:0032733 9.75 TLR4 TLR2
37 positive regulation of chemokine production GO:0032722 9.75 TLR4 TLR2
38 response to fatty acid GO:0070542 9.75 TLR2 CD36
39 cellular response to triacyl bacterial lipopeptide GO:0071727 9.75 TLR2 TLR1 CD14
40 microglial cell activation GO:0001774 9.74 TLR6 TLR2
41 activation of NF-kappaB-inducing kinase activity GO:0007250 9.74 TLR6 TIRAP
42 positive regulation of macrophage activation GO:0043032 9.74 TLR6 TLR4
43 toll-like receptor 9 signaling pathway GO:0034162 9.74 MYD88 IRAK4
44 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.74 TLR4 TLR2
45 3'-UTR-mediated mRNA stabilization GO:0070935 9.74 TIRAP MYD88
46 cellular response to bacterial lipopeptide GO:0071221 9.74 TLR2 TIRAP CD36
47 response to molecule of bacterial origin GO:0002237 9.73 TLR2 CD14
48 I-kappaB phosphorylation GO:0007252 9.73 TLR4 TLR2
49 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR4 TLR1
50 macrophage activation GO:0042116 9.73 TLR4 TLR1

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 TLR6 TLR4 TLR2 TLR10 TLR1 TIRAP
2 protein heterodimerization activity GO:0046982 9.88 TLR6 TLR4 TLR2 TLR1 TIRAP
3 transmembrane signaling receptor activity GO:0004888 9.83 TLR6 TLR5 TLR4 TLR10 TLR1
4 signaling receptor activity GO:0038023 9.8 TLR6 TLR4 TLR2 TLR1
5 interleukin-1 receptor binding GO:0005149 9.58 TLR5 MYD88 IRAK4
6 lipopolysaccharide binding GO:0001530 9.56 TLR4 TLR2 LY96 CD14
7 Toll-like receptor binding GO:0035325 9.5 TLR2 MYD88 CD36
8 Toll-like receptor 4 binding GO:0035662 9.46 TIRAP LY96
9 lipopolysaccharide receptor activity GO:0001875 9.33 TLR4 TLR2 LY96
10 Toll-like receptor 2 binding GO:0035663 9.13 TLR6 TLR1 TIRAP
11 lipopeptide binding GO:0071723 8.92 TLR6 TLR2 TLR1 CD14
12 protein binding GO:0005515 10.32 TLR6 TLR4 TLR2 TLR10 TLR1 TIRAP
Sources

Sources for Irak4 Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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