IRAK4, IVS7DS, G-T, +5 AND IRAK4 deficiency

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023584.2

Allele description [Variation Report for IRAK4, IVS7DS, G-T, +5]

IRAK4, IVS7DS, G-T, +5

Gene:
IRAK4:interleukin 1 receptor associated kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Preferred name:
IRAK4, IVS7DS, G-T, +5
HGVS:
    Nucleotide change:
    IVS7DS, G-T, +5
    Links:
    OMIM: 606883.0007

    Condition(s)

    Name:
    IRAK4 deficiency (IRAK4D)
    Identifiers:
    MedGen: C1843256; Orphanet: 70592; OMIM: 607676

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000044875OMIMno assertion criteria providedPathogenic
    (Oct 1, 2007)
    germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

    Hoarau C, Gérard B, Lescanne E, Henry D, François S, Lacapère JJ, El Benna J, Dang PM, Grandchamp B, Lebranchu Y, Gougerot-Pocidalo MA, Elbim C.

    J Immunol. 2007 Oct 1;179(7):4754-65.

    PubMed [citation]
    PMID:
    17878374

    Details of each submission

    From OMIM, SCV000044875.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    See 606883.0006 and Hoarau et al. (2007).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 5, 2017