| 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. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D84.8 | | Term | Overige gespecificeerde immunodeficiënties |
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| SNOMED CT to Orphanet simple map | 319605 |
| SNOMED CT to ICD-10 extended map | | Target | D84.8 | | Rule | TRUE | | Advice | ALWAYS D84.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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