Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Orpha code: 319543OMIM code:

Definition

A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).

Disease data
Classification

Category

Synonyms
Autosomal dominant MSMD due to a partial deficiency
Autosomalna dominująca MSMD z powodu częściowego niedoboru
ORPHA code
319543
OMIM code
-
ICD10 code
D84.8
ICD11 code
-

No additional description.

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