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

Orpha code: 319539OMIM code:

Definition

A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma.

Disease data
Classification

Category

Synonyms
Autosomal recessive MSMD due to a partial deficiency
Autosomalna recesywna MSMD z powodu częściowego niedoboru
ORPHA code
319539
OMIM code
-
ICD10 code
D84.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl