X-gebonden mendeliaanse gevoeligheid voor mycobacteriële ziekte (aandoening)
X-gebonden mendeliaanse gevoeligheid voor mycobacteriële ziekte
X-gebonden MSMD
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.
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde immunodeficiënties
SNOMED CT to Orphanet simple map319605
SNOMED CT to ICD-10 extended map
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified