Autosomal recessive hereditary disorder
Mendelian susceptibility to mycobacterial disease
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Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive.
autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficientie van interferon-gammareceptor-1
autosomaal recessieve 'mendelian susceptibility to mycobacterial disease' door partiële IFNGR1-deficiëntie
autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële interferon-gamma-receptor-1-deficiëntie
autosomaal recessieve MSMD door partiële IFN-gamma-R1-deficiëntie
Id725431001
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified