Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Orpha code: 319535OMIM code:

Definition

A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.

Disease data
Classification

Category

Synonyms
Autosomal recessive MSMD due to a complete deficiency
Autosomalna recesywna MSMD z powodu całkowitego niedoboru
ORPHA code
319535
OMIM code
-
ICD10 code
D84.8
ICD11 code
-

No additional description.

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