MCID: IRK002
MIFTS: 32

Irak-4 Deficiency malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories
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Summaries for Irak-4 Deficiency

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NIH Rare Diseases:42 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. last updated: 9/20/2013

MalaCards based summary: Irak-4 Deficiency, also known as irak4 deficiency, is related to pericarditis and pleural empyema, and has symptoms including anomalies of the lymphatic system, immunodeficiency/increased susceptibility to infections/recurrent infections and polynuclear cells/neutrophils anomalies/neutropenia. An important gene associated with Irak-4 Deficiency is IRAK4 (interleukin-1 receptor-associated kinase 4), and among its related pathways are Toll-like receptor signaling pathway and NF-KappaB Family Pathway. The compound serine have been mentioned in the context of this disorder. Affiliated tissues include neutrophil.

Genetics Home Reference:21 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.

Description from OMIM:46 607676

Aliases & Classifications for Irak-4 Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Irak-4 Deficiency, Aliases & Descriptions:

Name: Irak-4 Deficiency 42 21 62
Irak4 Deficiency 42 20 22 21 46 48 62
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 21 62
 
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 48
Interleukin Receptor-Associated Kinase Deficiency 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
irak4 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


External Ids:

OMIM46 607676
ICD10 via Orphanet26 D84.8

Related Diseases for Irak-4 Deficiency

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Diseases related to Irak-4 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pericarditis10.4
2pleural empyema10.4
3ipex syndrome9.9TLR9, IRAK4

Symptoms for Irak-4 Deficiency

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Clinical features from OMIM:

607676

Symptoms:

48
  • anomalies of the lymphatic system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polynuclear cells/neutrophils anomalies/neutropenia

HPO human phenotypes related to Irak-4 Deficiency:

id Description Frequency HPO Source Accession
1 abnormality of neutrophils hallmark (90%) HP:0001874
2 abnormality of immune system physiology hallmark (90%) HP:0010978
3 abnormality of the lymphatic system hallmark (90%) HP:0100763

Drugs & Therapeutics for Irak-4 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Irak-4 Deficiency

Search NIH Clinical Center for Irak-4 Deficiency

Genetic Tests for Irak-4 Deficiency

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Genetic tests related to Irak-4 Deficiency:

id Genetic test Affiliating Genes
1 Irak4 Deficiency20 22 IRAK4

Anatomical Context for Irak-4 Deficiency

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MalaCards organs/tissues related to Irak-4 Deficiency:

32
Neutrophil

Animal Models for Irak-4 Deficiency or affiliated genes

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Publications for Irak-4 Deficiency

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Articles related to Irak-4 Deficiency:

idTitleAuthorsYear
1
Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency. (19663824)
2009
2
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. (17878374)
2007
3
Inherited human IRAK-4 deficiency: an update. (17917042)
2007
4
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. (15069404)
2004
5
Pyogenic bacterial infections in humans with IRAK-4 deficiency. (12637671)
2003

Variations for Irak-4 Deficiency

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Clinvar genetic disease variations for Irak-4 Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1IRAK4NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys)single nucleotide variantPathogenicrs377584435GRCh37Chr 12, 44161948: 44161948
2IRAK4IRAK4, IVS7DS, G-T, +5single nucleotide variantPathogenic
3IRAK4IRAK4, 1-BP DEL, 821TdeletionPathogenic
4IRAK4NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter)single nucleotide variantPathogenicrs121908002GRCh37Chr 12, 44172041: 44172041
5IRAK4IRAK4, 2-BP DEL, 620ACdeletionPathogenic

Expression for genes affiliated with Irak-4 Deficiency

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Expression patterns in normal tissues for genes affiliated with Irak-4 Deficiency

Search GEO for disease gene expression data for Irak-4 Deficiency.

Pathways for genes affiliated with Irak-4 Deficiency

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Pathways related to Irak-4 Deficiency according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
9.1IRAK4, TLR9
2
Show member pathways
9.1IRAK4, TLR9
3
Show member pathways
9.1TLR9, IRAK4
4
Show member pathways
9.1IRAK4, TLR9
5
Show member pathways
9.1IRAK4, TLR9
6
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.1TLR9, IRAK4
79.1IRAK4, TLR9
89.1IRAK4, TLR9
9
Show member pathways
9.1IRAK4, TLR9
10
Show member pathways
9.1TLR9, IRAK4
11
Show member pathways
9.1IRAK4, TLR9
12
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.1IRAK4, TLR9

Compounds for genes affiliated with Irak-4 Deficiency

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Sources:
44Novoseek
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Compounds related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine449.1IRAK4, TLR9

GO Terms for genes affiliated with Irak-4 Deficiency

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Cellular components related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:0100089.1IRAK4, TLR9

Biological processes related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1toll-like receptor 9 signaling pathwayGO:0341629.2IRAK4, TLR9
2MyD88-dependent toll-like receptor signaling pathwayGO:0027559.1IRAK4, TLR9
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.1IRAK4, TLR9
4toll-like receptor signaling pathwayGO:0022249.0TLR9, IRAK4
5innate immune responseGO:0450878.8IRAK4, TLR9

Molecular functions related to Irak-4 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:0051499.1IRAK4, TLR9

Products for genes affiliated with Irak-4 Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Irak-4 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet