MCID: IRK001
MIFTS: 45

Irak4 Deficiency

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

Aliases & Classifications for Irak4 Deficiency

MalaCards integrated aliases for Irak4 Deficiency:

Name: Irak4 Deficiency 57 53 25 59 75 29 13 6 40 73
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 25 73
Irak-4 Deficiency 53 25
Irak4d 57 75
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 59
Interleukin Receptor-Associated Kinase Deficiency 53
Interleukin 1 Receptor-Associated Kinase 4 13

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:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 607676
Orphanet 59 ORPHA70592
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 74 C1843256
MedGen 42 C1843256
SNOMED-CT via HPO 69 165517008 234532001

Summaries for Irak4 Deficiency

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.

MalaCards based summary : Irak4 Deficiency, also known as interleukin-1 receptor-associated kinase 4 deficiency, is related to pneumonia and leukocyte adhesion deficiency, type iii. 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, and related phenotypes are neutropenia and immunodeficiency

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.

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 : 75 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Wikipedia : 76 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:

(showing 40, show less)
# Related Disease Score Top Affiliating Genes
1 pneumonia 29.7 TLR2 TLR4 TLR5
2 leukocyte adhesion deficiency, type iii 11.0
3 invasive pneumococcal disease, recurrent isolated, 1 10.5 IRAK4 TIRAP
4 plasma protein metabolism disease 10.5 BTK MYD88
5 ocular toxoplasmosis 10.5 TLR1 TLR5
6 prosthetic joint infection 10.4 TLR2 TLR4
7 trench fever 10.3 TLR2 TLR4
8 mycobacterium abscessus 10.3 TLR1 TLR2
9 mesenteric lymphadenitis 10.3 MYD88 TLR2
10 acute cervicitis 10.3 TLR2 TLR4
11 mycobacterium chelonae 10.2 CD14 TLR2
12 myositis fibrosa 10.1 MYD88 TLR2 TLR4
13 mycobacterium kansasii 10.1 CD14 TLR2
14 suppurative otitis media 10.1 TLR2 TLR4 TLR5
15 alveolar echinococcosis 10.1 TLR2 TLR4
16 septic arthritis 10.1 TLR2 TLR4 TLR5
17 ileitis 10.1 TLR2 TLR4 TLR5
18 bronchiolitis 10.0 TLR1 TLR10 TLR4
19 mycobacterium tuberculosis 1 10.0 MYD88 TLR2 TLR4
20 neisseria meningitidis infection 10.0 TLR2 TLR4
21 ariboflavinosis 10.0 TLR4 TLR6
22 pleuropneumonia 10.0 IRAK4 MYD88
23 pericarditis 9.9
24 pleural empyema 9.9
25 bacteriuria 9.9 TIRAP TLR1 TLR4
26 neurosyphilis 9.9 TLR1 TLR2 TLR6
27 legionnaires' disease 9.9 TLR4 TLR5 TLR6
28 scrub typhus 9.9 TLR2 TLR4
29 lyme disease 9.9 TLR1 TLR2 TLR6
30 neutrophil migration 9.9
31 hyper ige syndrome 9.9
32 legionellosis 9.8 MYD88 TLR2 TLR4 TLR5
33 q fever 9.7 TLR1 TLR10 TLR2 TLR4
34 penicilliosis 9.5 TLR1 TLR2 TLR4 TLR6
35 invasive aspergillosis 9.4 TLR1 TLR2 TLR4 TLR6
36 filariasis 9.4 TLR1 TLR2 TLR4 TLR6
37 pelvic inflammatory disease 8.9 TIRAP TLR1 TLR2 TLR4 TLR6
38 malaria 8.9 CD36 MYD88 TIRAP TLR2 TLR4
39 melioidosis 8.4 LY96 TLR1 TLR10 TLR2 TLR4 TLR5
40 myd88 deficiency 5.3 BTK CD14 CD36 IRAK4 LY96 MYD88

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



Diseases related to Irak4 Deficiency

Symptoms & Phenotypes for Irak4 Deficiency

Clinical features from OMIM:

607676

Human phenotypes related to Irak4 Deficiency:

59 32 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
2 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
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%)

MGI Mouse Phenotypes related to Irak4 Deficiency:

46 (showing 4, show less)
# 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 29 IRAK4

Anatomical Context for Irak4 Deficiency

MalaCards organs/tissues related to Irak4 Deficiency:

41
T Cells

Publications for Irak4 Deficiency

Articles related to Irak4 Deficiency:

(showing 4, show less)
# 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
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. ( 26884959 )
2015
4
Recurrent systemic pneumococcal disease and IRAK4 deficiency. ( 17984826 )
2007

Variations for Irak4 Deficiency

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

75 (showing 2, show less)
# 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
(showing 134, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRAK4 IRAK4, 2-BP DEL, 620AC deletion Pathogenic
2 IRAK4 IRAK4, 1-BP DEL, 821T deletion Pathogenic
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 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Likely pathogenic rs377584435 GRCh37 Chromosome 12, 44161948: 44161948
6 IRAK4 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Likely pathogenic rs377584435 GRCh38 Chromosome 12, 43768145: 43768145
7 IRAK4 IRAK4, IVS7DS, G-T, +5 single nucleotide variant Pathogenic
8 IRAK4 NM_016123.3(IRAK4): c.-54G> A single nucleotide variant Uncertain significance rs886049383 GRCh38 Chromosome 12, 43758972: 43758972
9 IRAK4 NM_016123.3(IRAK4): c.-54G> A single nucleotide variant Uncertain significance rs886049383 GRCh37 Chromosome 12, 44152775: 44152775
10 IRAK4 NM_016123.3(IRAK4): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886049386 GRCh38 Chromosome 12, 43774026: 43774026
11 IRAK4 NM_016123.3(IRAK4): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886049386 GRCh37 Chromosome 12, 44167829: 44167829
12 IRAK4 NM_016123.3(IRAK4): c.1282G> A (p.Ala428Thr) single nucleotide variant Benign rs4251545 GRCh38 Chromosome 12, 43786492: 43786492
13 IRAK4 NM_016123.3(IRAK4): c.1282G> A (p.Ala428Thr) single nucleotide variant Benign rs4251545 GRCh37 Chromosome 12, 44180295: 44180295
14 IRAK4 NM_016123.3(IRAK4): c.*989T> G single nucleotide variant Uncertain significance rs4251584 GRCh37 Chromosome 12, 44181507: 44181507
15 IRAK4 NM_016123.3(IRAK4): c.*989T> G single nucleotide variant Uncertain significance rs4251584 GRCh38 Chromosome 12, 43787704: 43787704
16 IRAK4 NM_016123.3(IRAK4): c.*1306C> T single nucleotide variant Uncertain significance rs770097373 GRCh37 Chromosome 12, 44181824: 44181824
17 IRAK4 NM_016123.3(IRAK4): c.*1306C> T single nucleotide variant Uncertain significance rs770097373 GRCh38 Chromosome 12, 43788021: 43788021
18 IRAK4 NM_016123.3(IRAK4): c.*1435T> G single nucleotide variant Uncertain significance rs886049393 GRCh37 Chromosome 12, 44181953: 44181953
19 IRAK4 NM_016123.3(IRAK4): c.*1435T> G single nucleotide variant Uncertain significance rs886049393 GRCh38 Chromosome 12, 43788150: 43788150
20 IRAK4 NM_016123.3(IRAK4): c.*1794T> C single nucleotide variant Benign rs4251555 GRCh37 Chromosome 12, 44182312: 44182312
21 IRAK4 NM_016123.3(IRAK4): c.*1794T> C single nucleotide variant Benign rs4251555 GRCh38 Chromosome 12, 43788509: 43788509
22 IRAK4 NM_016123.3(IRAK4): c.*1974G> A single nucleotide variant Uncertain significance rs12321678 GRCh37 Chromosome 12, 44182492: 44182492
23 IRAK4 NM_016123.3(IRAK4): c.*1974G> A single nucleotide variant Uncertain significance rs12321678 GRCh38 Chromosome 12, 43788689: 43788689
24 IRAK4 NM_016123.3(IRAK4): c.*2071C> T single nucleotide variant Uncertain significance rs776314485 GRCh37 Chromosome 12, 44182589: 44182589
25 IRAK4 NM_016123.3(IRAK4): c.*2071C> T single nucleotide variant Uncertain significance rs776314485 GRCh38 Chromosome 12, 43788786: 43788786
26 IRAK4 NM_016123.3(IRAK4): c.*2188A> G single nucleotide variant Benign rs1141168 GRCh38 Chromosome 12, 43788903: 43788903
27 IRAK4 NM_016123.3(IRAK4): c.*2188A> G single nucleotide variant Benign rs1141168 GRCh37 Chromosome 12, 44182706: 44182706
28 IRAK4 NM_016123.3(IRAK4): c.*2666G> T single nucleotide variant Uncertain significance rs375914722 GRCh38 Chromosome 12, 43789381: 43789381
29 IRAK4 NM_016123.3(IRAK4): c.*2666G> T single nucleotide variant Uncertain significance rs375914722 GRCh37 Chromosome 12, 44183184: 44183184
30 IRAK4 NM_016123.3(IRAK4): c.613G> A (p.Val205Ile) single nucleotide variant Uncertain significance rs370225662 GRCh38 Chromosome 12, 43773034: 43773034
31 IRAK4 NM_016123.3(IRAK4): c.613G> A (p.Val205Ile) single nucleotide variant Uncertain significance rs370225662 GRCh37 Chromosome 12, 44166837: 44166837
32 IRAK4 NM_016123.3(IRAK4): c.*146T> C single nucleotide variant Likely benign rs4251546 GRCh38 Chromosome 12, 43786861: 43786861
33 IRAK4 NM_016123.3(IRAK4): c.*146T> C single nucleotide variant Likely benign rs4251546 GRCh37 Chromosome 12, 44180664: 44180664
34 IRAK4 NM_016123.3(IRAK4): c.*520T> A single nucleotide variant Uncertain significance rs4251550 GRCh38 Chromosome 12, 43787235: 43787235
35 IRAK4 NM_016123.3(IRAK4): c.*520T> A single nucleotide variant Uncertain significance rs4251550 GRCh37 Chromosome 12, 44181038: 44181038
36 IRAK4 NM_016123.3(IRAK4): c.*608A> G single nucleotide variant Likely benign rs4251551 GRCh37 Chromosome 12, 44181126: 44181126
37 IRAK4 NM_016123.3(IRAK4): c.*608A> G single nucleotide variant Likely benign rs4251551 GRCh38 Chromosome 12, 43787323: 43787323
38 IRAK4 NM_016123.3(IRAK4): c.*1115G> T single nucleotide variant Uncertain significance rs886049391 GRCh37 Chromosome 12, 44181633: 44181633
39 IRAK4 NM_016123.3(IRAK4): c.*1115G> T single nucleotide variant Uncertain significance rs886049391 GRCh38 Chromosome 12, 43787830: 43787830
40 IRAK4 NM_016123.3(IRAK4): c.*1161G> A single nucleotide variant Uncertain significance rs545334973 GRCh37 Chromosome 12, 44181679: 44181679
41 IRAK4 NM_016123.3(IRAK4): c.*1161G> A single nucleotide variant Uncertain significance rs545334973 GRCh38 Chromosome 12, 43787876: 43787876
42 IRAK4 NM_016123.3(IRAK4): c.*1325G> A single nucleotide variant Uncertain significance rs139778399 GRCh37 Chromosome 12, 44181843: 44181843
43 IRAK4 NM_016123.3(IRAK4): c.*1325G> A single nucleotide variant Uncertain significance rs139778399 GRCh38 Chromosome 12, 43788040: 43788040
44 IRAK4 NM_016123.3(IRAK4): c.*1999dupT duplication Uncertain significance rs886049394 GRCh37 Chromosome 12, 44182517: 44182517
45 IRAK4 NM_016123.3(IRAK4): c.*1999dupT duplication Uncertain significance rs886049394 GRCh38 Chromosome 12, 43788714: 43788714
46 IRAK4 NM_016123.3(IRAK4): c.*2083C> G single nucleotide variant Uncertain significance rs111813306 GRCh38 Chromosome 12, 43788798: 43788798
47 IRAK4 NM_016123.3(IRAK4): c.*2083C> G single nucleotide variant Uncertain significance rs111813306 GRCh37 Chromosome 12, 44182601: 44182601
48 IRAK4 NM_016123.3(IRAK4): c.*2345A> G single nucleotide variant Uncertain significance rs368152755 GRCh38 Chromosome 12, 43789060: 43789060
49 IRAK4 NM_016123.3(IRAK4): c.*2345A> G single nucleotide variant Uncertain significance rs368152755 GRCh37 Chromosome 12, 44182863: 44182863
50 IRAK4 NM_016123.3(IRAK4): c.*2704C> T single nucleotide variant Likely benign rs4251562 GRCh38 Chromosome 12, 43789419: 43789419
51 IRAK4 NM_016123.3(IRAK4): c.*2704C> T single nucleotide variant Likely benign rs4251562 GRCh37 Chromosome 12, 44183222: 44183222
52 IRAK4 NM_016123.3(IRAK4): c.1347+13delT deletion Uncertain significance rs886049387 GRCh37 Chromosome 12, 44180373: 44180373
53 IRAK4 NM_016123.3(IRAK4): c.-66G> A single nucleotide variant Uncertain significance rs570128219 GRCh38 Chromosome 12, 43758960: 43758960
54 IRAK4 NM_016123.3(IRAK4): c.-66G> A single nucleotide variant Uncertain significance rs570128219 GRCh37 Chromosome 12, 44152763: 44152763
55 IRAK4 NM_016123.3(IRAK4): c.526G> T (p.Val176Phe) single nucleotide variant Uncertain significance rs886049385 GRCh38 Chromosome 12, 43772947: 43772947
56 IRAK4 NM_016123.3(IRAK4): c.526G> T (p.Val176Phe) single nucleotide variant Uncertain significance rs886049385 GRCh37 Chromosome 12, 44166750: 44166750
57 IRAK4 NM_016123.3(IRAK4): c.720T> C (p.Cys240=) single nucleotide variant Conflicting interpretations of pathogenicity rs144854858 GRCh38 Chromosome 12, 43777633: 43777633
58 IRAK4 NM_016123.3(IRAK4): c.720T> C (p.Cys240=) single nucleotide variant Conflicting interpretations of pathogenicity rs144854858 GRCh37 Chromosome 12, 44171436: 44171436
59 IRAK4 NM_016123.3(IRAK4): c.742C> T (p.Leu248=) single nucleotide variant Uncertain significance rs375755560 GRCh38 Chromosome 12, 43777655: 43777655
60 IRAK4 NM_016123.3(IRAK4): c.742C> T (p.Leu248=) single nucleotide variant Uncertain significance rs375755560 GRCh37 Chromosome 12, 44171458: 44171458
61 IRAK4 NM_016123.3(IRAK4): c.1191A> G (p.Leu397=) single nucleotide variant Uncertain significance rs773095217 GRCh38 Chromosome 12, 43786401: 43786401
62 IRAK4 NM_016123.3(IRAK4): c.1191A> G (p.Leu397=) single nucleotide variant Uncertain significance rs773095217 GRCh37 Chromosome 12, 44180204: 44180204
63 IRAK4 NM_016123.3(IRAK4): c.1347+13delT deletion Uncertain significance rs886049387 GRCh38 Chromosome 12, 43786570: 43786570
64 IRAK4 NM_016123.3(IRAK4): c.*281A> G single nucleotide variant Uncertain significance rs4251548 GRCh38 Chromosome 12, 43786996: 43786996
65 IRAK4 NM_016123.3(IRAK4): c.*281A> G single nucleotide variant Uncertain significance rs4251548 GRCh37 Chromosome 12, 44180799: 44180799
66 IRAK4 NM_016123.3(IRAK4): c.*1028T> C single nucleotide variant Uncertain significance rs886049390 GRCh37 Chromosome 12, 44181546: 44181546
67 IRAK4 NM_016123.3(IRAK4): c.*1028T> C single nucleotide variant Uncertain significance rs886049390 GRCh38 Chromosome 12, 43787743: 43787743
68 IRAK4 NM_016123.3(IRAK4): c.*1760G> A single nucleotide variant Likely benign rs144535012 GRCh37 Chromosome 12, 44182278: 44182278
69 IRAK4 NM_016123.3(IRAK4): c.*1760G> A single nucleotide variant Likely benign rs144535012 GRCh38 Chromosome 12, 43788475: 43788475
70 IRAK4 NM_016123.3(IRAK4): c.*1895G> A single nucleotide variant Likely benign rs4251558 GRCh37 Chromosome 12, 44182413: 44182413
71 IRAK4 NM_016123.3(IRAK4): c.*1895G> A single nucleotide variant Likely benign rs4251558 GRCh38 Chromosome 12, 43788610: 43788610
72 IRAK4 NM_016123.3(IRAK4): c.*2198T> C single nucleotide variant Uncertain significance rs563217241 GRCh38 Chromosome 12, 43788913: 43788913
73 IRAK4 NM_016123.3(IRAK4): c.*2198T> C single nucleotide variant Uncertain significance rs563217241 GRCh37 Chromosome 12, 44182716: 44182716
74 IRAK4 NM_016123.3(IRAK4): c.*2761G> A single nucleotide variant Likely benign rs4251563 GRCh38 Chromosome 12, 43789476: 43789476
75 IRAK4 NM_016123.3(IRAK4): c.*2761G> A single nucleotide variant Likely benign rs4251563 GRCh37 Chromosome 12, 44183279: 44183279
76 IRAK4 NM_016123.3(IRAK4): c.*2817A> G single nucleotide variant Uncertain significance rs4251564 GRCh38 Chromosome 12, 43789532: 43789532
77 IRAK4 NM_016123.3(IRAK4): c.*2817A> G single nucleotide variant Uncertain significance rs4251564 GRCh37 Chromosome 12, 44183335: 44183335
78 IRAK4 NM_016123.3(IRAK4): c.-75C> T single nucleotide variant Uncertain significance rs886049382 GRCh38 Chromosome 12, 43758951: 43758951
79 IRAK4 NM_016123.3(IRAK4): c.-75C> T single nucleotide variant Uncertain significance rs886049382 GRCh37 Chromosome 12, 44152754: 44152754
80 IRAK4 NM_016123.3(IRAK4): c.-16C> G single nucleotide variant Uncertain significance rs886049384 GRCh38 Chromosome 12, 43759010: 43759010
81 IRAK4 NM_016123.3(IRAK4): c.-16C> G single nucleotide variant Uncertain significance rs886049384 GRCh37 Chromosome 12, 44152813: 44152813
82 IRAK4 NM_016123.3(IRAK4): c.318C> G (p.Pro106=) single nucleotide variant Conflicting interpretations of pathogenicity rs56338336 GRCh38 Chromosome 12, 43772190: 43772190
83 IRAK4 NM_016123.3(IRAK4): c.318C> G (p.Pro106=) single nucleotide variant Conflicting interpretations of pathogenicity rs56338336 GRCh37 Chromosome 12, 44165993: 44165993
84 IRAK4 NM_016123.3(IRAK4): c.*84_*86delCTT deletion Uncertain significance rs886049388 GRCh38 Chromosome 12, 43786799: 43786801
85 IRAK4 NM_016123.3(IRAK4): c.*84_*86delCTT deletion Uncertain significance rs886049388 GRCh37 Chromosome 12, 44180602: 44180604
86 IRAK4 NM_016123.3(IRAK4): c.*270C> T single nucleotide variant Likely benign rs4251547 GRCh38 Chromosome 12, 43786985: 43786985
87 IRAK4 NM_016123.3(IRAK4): c.*270C> T single nucleotide variant Likely benign rs4251547 GRCh37 Chromosome 12, 44180788: 44180788
88 IRAK4 NM_016123.3(IRAK4): c.*574C> T single nucleotide variant Uncertain significance rs886049389 GRCh37 Chromosome 12, 44181092: 44181092
89 IRAK4 NM_016123.3(IRAK4): c.*574C> T single nucleotide variant Uncertain significance rs886049389 GRCh38 Chromosome 12, 43787289: 43787289
90 IRAK4 NM_016123.3(IRAK4): c.*623A> G single nucleotide variant Likely benign rs4251552 GRCh37 Chromosome 12, 44181141: 44181141
91 IRAK4 NM_016123.3(IRAK4): c.*623A> G single nucleotide variant Likely benign rs4251552 GRCh38 Chromosome 12, 43787338: 43787338
92 IRAK4 NM_016123.3(IRAK4): c.*1162T> G single nucleotide variant Uncertain significance rs886049392 GRCh37 Chromosome 12, 44181680: 44181680
93 IRAK4 NM_016123.3(IRAK4): c.*1162T> G single nucleotide variant Uncertain significance rs886049392 GRCh38 Chromosome 12, 43787877: 43787877
94 IRAK4 NM_016123.3(IRAK4): c.*1272G> T single nucleotide variant Uncertain significance rs182497864 GRCh37 Chromosome 12, 44181790: 44181790
95 IRAK4 NM_016123.3(IRAK4): c.*1272G> T single nucleotide variant Uncertain significance rs182497864 GRCh38 Chromosome 12, 43787987: 43787987
96 IRAK4 NM_016123.3(IRAK4): c.*1668C> G single nucleotide variant Uncertain significance rs576135948 GRCh37 Chromosome 12, 44182186: 44182186
97 IRAK4 NM_016123.3(IRAK4): c.*1668C> G single nucleotide variant Uncertain significance rs576135948 GRCh38 Chromosome 12, 43788383: 43788383
98 IRAK4 NM_016123.3(IRAK4): c.*1777A> T single nucleotide variant Uncertain significance rs4251554 GRCh37 Chromosome 12, 44182295: 44182295
99 IRAK4 NM_016123.3(IRAK4): c.*1777A> T single nucleotide variant Uncertain significance rs4251554 GRCh38 Chromosome 12, 43788492: 43788492
100 IRAK4 NM_016123.3(IRAK4): c.*1887C> T single nucleotide variant Likely benign rs4251556 GRCh37 Chromosome 12, 44182405: 44182405
101 IRAK4 NM_016123.3(IRAK4): c.*1887C> T single nucleotide variant Likely benign rs4251556 GRCh38 Chromosome 12, 43788602: 43788602
102 IRAK4 NM_016123.3(IRAK4): c.*2076C> T single nucleotide variant Uncertain significance rs886049395 GRCh38 Chromosome 12, 43788791: 43788791
103 IRAK4 NM_016123.3(IRAK4): c.*2076C> T single nucleotide variant Uncertain significance rs886049395 GRCh37 Chromosome 12, 44182594: 44182594
104 IRAK4 NM_016123.3(IRAK4): c.*2433T> C single nucleotide variant Benign rs9849 GRCh38 Chromosome 12, 43789148: 43789148
105 IRAK4 NM_016123.3(IRAK4): c.*2433T> C single nucleotide variant Benign rs9849 GRCh37 Chromosome 12, 44182951: 44182951
106 IRAK4 NM_016123.3(IRAK4): c.*2471G> A single nucleotide variant Uncertain significance rs886049396 GRCh38 Chromosome 12, 43789186: 43789186
107 IRAK4 NM_016123.3(IRAK4): c.*2471G> A single nucleotide variant Uncertain significance rs886049396 GRCh37 Chromosome 12, 44182989: 44182989
108 IRAK4 NM_016123.3(IRAK4): c.*2563G> A single nucleotide variant Uncertain significance rs756483703 GRCh38 Chromosome 12, 43789278: 43789278
109 IRAK4 NM_016123.3(IRAK4): c.*2563G> A single nucleotide variant Uncertain significance rs756483703 GRCh37 Chromosome 12, 44183081: 44183081
110 IRAK4 NC_000012.11: g.(?_44177445)_(44180538_?)del deletion Likely pathogenic GRCh37 Chromosome 12, 44177445: 44180538
111 IRAK4 NM_016123.3(IRAK4): c.224delG (p.Gly75Alafs) deletion Pathogenic GRCh37 Chromosome 12, 44165085: 44165085
112 IRAK4 NM_016123.3(IRAK4): c.224delG (p.Gly75Alafs) deletion Pathogenic GRCh38 Chromosome 12, 43771282: 43771282
113 IRAK4 NM_016123.3(IRAK4): c.291G> A (p.Ala97=) single nucleotide variant Likely benign rs17851028 GRCh38 Chromosome 12, 43771349: 43771349
114 IRAK4 NM_016123.3(IRAK4): c.291G> A (p.Ala97=) single nucleotide variant Likely benign rs17851028 GRCh37 Chromosome 12, 44165152: 44165152
115 IRAK4 NM_016123.3(IRAK4): c.717-1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 44171432: 44171432
116 IRAK4 NM_016123.3(IRAK4): c.717-1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 43777629: 43777629
117 IRAK4 NM_016123.3(IRAK4): c.1172G> A (p.Arg391His) single nucleotide variant Benign rs55944915 GRCh38 Chromosome 12, 43783708: 43783708
118 IRAK4 NM_016123.3(IRAK4): c.1172G> A (p.Arg391His) single nucleotide variant Benign rs55944915 GRCh37 Chromosome 12, 44177511: 44177511
119 IRAK4 NM_016123.3(IRAK4): c.290C> T (p.Ala97Val) single nucleotide variant Uncertain significance rs764597369 GRCh37 Chromosome 12, 44165151: 44165151
120 IRAK4 NM_016123.3(IRAK4): c.290C> T (p.Ala97Val) single nucleotide variant Uncertain significance rs764597369 GRCh38 Chromosome 12, 43771348: 43771348
121 IRAK4 NM_016123.3(IRAK4): c.1171C> T (p.Arg391Cys) single nucleotide variant Likely benign rs114820168 GRCh38 Chromosome 12, 43783707: 43783707
122 IRAK4 NM_016123.3(IRAK4): c.1171C> T (p.Arg391Cys) single nucleotide variant Likely benign rs114820168 GRCh37 Chromosome 12, 44177510: 44177510
123 IRAK4 NM_016123.3(IRAK4): c.624A> C (p.Thr208=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 44166848: 44166848
124 IRAK4 NM_016123.3(IRAK4): c.624A> C (p.Thr208=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 43773045: 43773045
125 IRAK4 NM_016123.3(IRAK4): c.229A> G (p.Thr77Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 44165090: 44165090
126 IRAK4 NM_016123.3(IRAK4): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 44162002: 44162002
127 IRAK4 NM_016123.3(IRAK4): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 43768199: 43768199
128 IRAK4 NM_016123.3(IRAK4): c.229A> G (p.Thr77Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 43771287: 43771287
129 IRAK4 NM_016123.3(IRAK4): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs111935971 GRCh37 Chromosome 12, 44167807: 44167807
130 IRAK4 NM_016123.3(IRAK4): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs111935971 GRCh38 Chromosome 12, 43774004: 43774004
131 IRAK4 NM_016123.3(IRAK4): c.783A> G (p.Val261=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 44171499: 44171499
132 IRAK4 NM_016123.3(IRAK4): c.783A> G (p.Val261=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 43777696: 43777696
133 IRAK4 NM_016123.3(IRAK4): c.938A> C (p.Lys313Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 44172102: 44172102
134 IRAK4 NM_016123.3(IRAK4): c.938A> C (p.Lys313Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 43778299: 43778299

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:

(showing 44, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 BTK CD14 CD36 IRAK4 LY96 MYD88
2
Show member pathways
13.68 BTK CD14 CD36 IRAK4 LY96 MYD88
3
Show member pathways
13.57 BTK CD14 CD36 IRAK4 LY96 MYD88
4
Show member pathways
13.48 BTK CD14 CD36 LY96 MYD88 TIRAP
5
Show member pathways
13.43 BTK IRAK4 MYD88 TIRAP TLR1 TLR10
6
Show member pathways
12.89 BTK CD14 IRAK4 LY96 MYD88 TIRAP
7
Show member pathways
12.81 BTK CD14 IRAK4 MYD88 TLR1 TLR10
8
Show member pathways
12.77 IRAK4 MYD88 TLR1 TLR10 TLR2 TLR4
9
Show member pathways
12.74 CD14 LY96 MYD88 TIRAP TLR4
10
Show member pathways
12.68 IRAK4 MYD88 TLR2 TLR4
11 12.62 BTK IRAK4 MYD88 TLR1 TLR2 TLR6
12
Show member pathways
12.55 IRAK4 MYD88 TIRAP TLR1 TLR10 TLR2
13
Show member pathways
12.51 MYD88 TIRAP TLR2 TLR4
14
Show member pathways
12.51 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
15
Show member pathways
12.48 CD14 LY96 TLR4 TLR5
16
Show member pathways
12.41 BTK CD14 CD36 IRAK4 LY96 MYD88
17
Show member pathways
12.37 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
18
Show member pathways
12.36 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
19
Show member pathways
12.32 IRAK4 LY96 MYD88 TLR2 TLR4
20
Show member pathways
12.31 BTK CD14 IRAK4 LY96 MYD88 TIRAP
21
Show member pathways
12.29 IRAK4 MYD88 TIRAP TLR2 TLR5
22
Show member pathways
12.28 BTK CD14 LY96 TLR4
23 12.27 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
24 12.26 CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
25 12.22 CD14 CD36 TLR2 TLR4 TLR6
26
Show member pathways
12.13 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
27
Show member pathways
12.1 BTK CD14 CD36 LY96 MYD88 TIRAP
28 11.98 BTK CD14 IRAK4 LY96 MYD88 TIRAP
29 11.94 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
30
Show member pathways
11.93 CD14 LY96 MYD88 TLR4
31 11.89 CD14 MYD88 TLR4 TLR5
32 11.88 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
33 11.84 CD14 TLR2 TLR4
34 11.84 BTK CD14 IRAK4 LY96 MYD88 TLR4
35 11.71 CD14 MYD88 TLR2 TLR4 TLR5
36 11.68 CD14 LY96 MYD88 TLR4
37 11.67 IRAK4 MYD88 TIRAP
38 11.62 CD36 MYD88 TLR2 TLR4
39
Show member pathways
11.54 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
40 11.42 CD14 CD36 LY96 TLR4
41 11.24 MYD88 TLR1 TLR2
42 11.22 CD14 LY96 TLR4
43 11.01 MYD88 TLR2
44 10.91 CD14 LY96 TLR4

GO Terms for Irak4 Deficiency

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

(showing 9, show less)
# 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 receptor complex GO:0043235 9.63 CD36 TLR4 TLR6
5 phagocytic vesicle membrane GO:0030670 9.58 TLR1 TLR2 TLR6
6 intrinsic component of plasma membrane GO:0031226 9.54 LY96 TLR2 TLR4
7 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.32 TLR1 TLR2
8 lipopolysaccharide receptor complex GO:0046696 9.13 CD14 LY96 TLR4
9 membrane raft GO:0045121 9.1 BTK CD14 CD36 TLR1 TLR2 TLR6

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

(showing 74, show less)
# Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.98 CD36 MYD88 TIRAP TLR2
2 apoptotic signaling pathway GO:0097190 9.97 BTK CD14 LY96 TLR4
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.94 BTK CD14 LY96 TLR4
4 positive regulation of interleukin-6 production GO:0032755 9.94 CD36 MYD88 TLR2 TLR4
5 lipopolysaccharide-mediated signaling pathway GO:0031663 9.93 CD14 LY96 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 9.91 CD36 TLR4 TLR5 TLR6
8 cellular response to mechanical stimulus GO:0071260 9.9 MYD88 TLR4 TLR5
9 positive regulation of inflammatory response GO:0050729 9.9 TLR10 TLR2 TLR4
10 positive regulation of JNK cascade GO:0046330 9.9 MYD88 TIRAP TLR4
11 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.9 CD14 LY96 TLR4 TLR6
12 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 CD14 TLR2 TLR4
13 positive regulation of interleukin-8 production GO:0032757 9.89 TIRAP TLR2 TLR4 TLR5
14 positive regulation of interleukin-12 production GO:0032735 9.88 CD36 TIRAP TLR2 TLR4
15 cellular response to lipoteichoic acid GO:0071223 9.88 CD14 CD36 TIRAP TLR2 TLR4
16 cellular response to amyloid-beta GO:1904646 9.87 CD36 TLR4 TLR6
17 positive regulation of tumor necrosis factor production GO:0032760 9.87 CD14 CD36 LY96 MYD88 TIRAP TLR2
18 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.85 CD14 LY96 TLR4
19 cell activation GO:0001775 9.85 TLR1 TLR2 TLR6
20 necroptotic process GO:0070266 9.85 CD14 LY96 TLR4
21 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.84 MYD88 TLR4 TLR6
22 toll-like receptor 4 signaling pathway GO:0034142 9.83 CD14 LY96 TLR4
23 negative regulation of growth of symbiont in host GO:0044130 9.83 CD36 MYD88 TIRAP
24 positive regulation of interleukin-8 secretion GO:2000484 9.83 CD14 TLR1 TLR2
25 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.83 CD36 MYD88 TLR4 TLR6
26 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.82 CD36 TLR4 TLR6
27 interleukin-1 beta secretion GO:0050702 9.81 CD36 TLR4 TLR6
28 cellular response to diacyl bacterial lipopeptide GO:0071726 9.81 CD14 CD36 TLR2 TLR6
29 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.8 TIRAP TLR1 TLR6
30 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.8 CD14 CD36 TLR2 TLR6
31 cellular response to bacterial lipopeptide GO:0071221 9.8 CD36 TIRAP TLR1 TLR2 TLR6
32 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.79 CD14 LY96 TLR4
33 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.78 CD36 TLR4 TLR6
34 positive regulation of interferon-beta production GO:0032728 9.75 TLR2 TLR4
35 positive regulation of interleukin-10 production GO:0032733 9.75 TLR2 TLR4
36 positive regulation of chemokine production GO:0032722 9.75 TLR2 TLR4
37 activation of NF-kappaB-inducing kinase activity GO:0007250 9.74 TIRAP TLR6
38 response to fatty acid GO:0070542 9.74 CD36 TLR2
39 3-UTR-mediated mRNA stabilization GO:0070935 9.74 MYD88 TIRAP
40 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
41 toll-like receptor 9 signaling pathway GO:0034162 9.74 IRAK4 MYD88
42 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.74 TLR2 TLR4
43 microglial cell activation GO:0001774 9.74 TLR2 TLR6
44 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.74 CD14 TLR1 TLR2
45 response to molecule of bacterial origin GO:0002237 9.73 CD14 TLR2
46 I-kappaB phosphorylation GO:0007252 9.73 TLR2 TLR4
47 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR1 TLR4
48 T-helper 1 type immune response GO:0042088 9.73 TLR4 TLR6
49 macrophage activation GO:0042116 9.73 TLR1 TLR4
50 positive regulation of lymphocyte proliferation GO:0050671 9.73 MYD88 TLR4
51 cellular response to triacyl bacterial lipopeptide GO:0071727 9.73 CD14 TLR1 TLR2
52 positive regulation of macrophage cytokine production GO:0060907 9.72 CD36 TLR4
53 positive regulation of toll-like receptor 2 signaling pathway GO:0034137 9.71 TIRAP TLR1
54 positive regulation of toll-like receptor signaling pathway GO:0034123 9.71 TLR2 TLR5
55 detection of lipopolysaccharide GO:0032497 9.71 LY96 TLR4
56 nitric oxide metabolic process GO:0046209 9.7 TLR2 TLR6
57 positive regulation of oxidative stress-induced neuron death GO:1903223 9.7 TLR4 TLR6
58 detection of triacyl bacterial lipopeptide GO:0042495 9.7 TLR1 TLR2
59 response to bacterial lipoprotein GO:0032493 9.7 TLR2 TLR6
60 detection of diacyl bacterial lipopeptide GO:0042496 9.69 TLR2 TLR6
61 toll-like receptor signaling pathway GO:0002224 9.65 CD14 CD36 IRAK4 LY96 MYD88 TLR1
62 regulation of cytokine secretion GO:0050707 9.1 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
63 signal transduction GO:0007165 10.34 IRAK4 MYD88 TIRAP TLR1 TLR10 TLR2
64 immune response GO:0006955 10.15 CD36 TLR1 TLR10 TLR2 TLR4 TLR6
65 inflammatory response GO:0006954 10.13 CD14 LY96 MYD88 TIRAP TLR1 TLR10
66 immune system process GO:0002376 10.11 BTK CD14 IRAK4 LY96 MYD88 TLR1
67 positive regulation of gene expression GO:0010628 10.1 CD36 MYD88 TLR2 TLR4 TLR6
68 cell surface receptor signaling pathway GO:0007166 10.09 CD14 CD36 LY96 MYD88 TIRAP
69 MyD88-dependent toll-like receptor signaling pathway GO:0002755 10.07 BTK CD14 CD36 IRAK4 LY96 MYD88
70 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.06 BTK CD36 IRAK4 MYD88 TIRAP TLR2
71 response to lipopolysaccharide GO:0032496 10.05 CD14 LY96 MYD88 TIRAP TLR2 TLR4
72 cellular response to lipopolysaccharide GO:0071222 10.03 CD14 CD36 LY96 TLR4 TLR5
73 defense response to bacterium GO:0042742 10.02 TLR1 TLR4 TLR5 TLR6
74 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.02 CD36 IRAK4 MYD88 TIRAP TLR4 TLR6

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

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.88 TIRAP TLR1 TLR2 TLR4 TLR6
2 signaling receptor binding GO:0005102 9.8 BTK MYD88 TLR4 TLR6
3 transmembrane signaling receptor activity GO:0004888 9.8 TLR1 TLR10 TLR4 TLR5 TLR6
4 signaling receptor activity GO:0038023 9.73 TLR1 TLR2 TLR4 TLR6
5 lipopolysaccharide binding GO:0001530 9.54 CD14 TLR2 TLR4
6 interleukin-1 receptor binding GO:0005149 9.5 IRAK4 MYD88 TLR5
7 Toll-like receptor binding GO:0035325 9.43 CD36 MYD88 TLR2
8 lipopolysaccharide receptor activity GO:0001875 9.33 LY96 TLR2 TLR4
9 Toll-like receptor 2 binding GO:0035663 9.13 TIRAP TLR1 TLR6
10 lipopeptide binding GO:0071723 8.92 CD14 TLR1 TLR2 TLR6
11 protein binding GO:0005515 10.3 BTK CD14 CD36 IRAK4 LY96 MYD88

Sources for Irak4 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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