Mendelian susceptibility to mycobacterial disease
X-linked recessive hereditary disease
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X-linked mendelian susceptibility to mycobacterial disease (disorder)
X-linked mendelian susceptibility to mycobacterial disease
Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan.
X-gebonden mendeliaanse gevoeligheid voor mycobacteriële ziekte
X-gebonden MSMD
Id719814009
StatusDefined
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