Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 08-09-2017

Symbol	IMD42
Location	1q21.3
Name	Immunodeficiency 42
Corresponding gene	RORC
Main clinical features	primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy; patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)