MCID: IRK001
MIFTS: 23

Irak4 Deficiency malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories

Summaries for Irak4 Deficiency

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NIH Rare Diseases:43 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: Irak4 Deficiency, also known as immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency, is related to pericarditis and pleural empyema, and has symptoms including abnormality of neutrophils, abnormality of immune system physiology and abnormality of the lymphatic system. An important gene associated with Irak4 Deficiency is IRAK4 (interleukin-1 receptor-associated kinase 4). Affiliated tissues include neutrophil.

Genetics Home Reference:23 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:47 IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see... (607676) more...

Aliases & Classifications for Irak4 Deficiency

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Irak4 Deficiency, Aliases & Descriptions:

Name: Irak4 Deficiency 47 11 43 22 23 49 24
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 43 49
Irak-4 Deficiency 43 23
 
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 23
Interleukin Receptor-Associated Kinase Deficiency 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
irak4 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age


External Ids:

OMIM47 607676
Orphanet49 70592
ICD10 via Orphanet28 D84.8

Related Diseases for Irak4 Deficiency

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Diseases related to Irak4 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pericarditis10.4
2pleural empyema10.4

Symptoms for Irak4 Deficiency

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Clinical features from OMIM:

607676

Symptoms:

 49
  • anomalies of the lymphatic system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polynuclear cells/neutrophils anomalies/neutropenia

HPO human phenotypes related to Irak4 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 Irak4 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Irak4 Deficiency

Search NIH Clinical Center for Irak4 Deficiency

Genetic Tests for Irak4 Deficiency

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Genetic tests related to Irak4 Deficiency:

id Genetic test Affiliating Genes
1 Irak4 Deficiency22 24 IRAK4

Anatomical Context for Irak4 Deficiency

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MalaCards organs/tissues related to Irak4 Deficiency:

33
Neutrophil

Animal Models for Irak4 Deficiency or affiliated genes

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Publications for Irak4 Deficiency

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Variations for Irak4 Deficiency

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Clinvar genetic disease variations for Irak4 Deficiency:

7
id Gene Variation 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 Irak4 Deficiency

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Search GEO for disease gene expression data for Irak4 Deficiency.

Pathways for genes affiliated with Irak4 Deficiency

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Compounds for genes affiliated with Irak4 Deficiency

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GO Terms for genes affiliated with Irak4 Deficiency

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Products for genes affiliated with Irak4 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Irak4 Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet