Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30-08-2017

Symbol	IMD8
Location	16p11.2
Name	Immunodeficiency 8
Corresponding gene	CORO1A
Main clinical features	primary immunodeficiency characterized by early-onset recurrent infections decreased numbers of lymphocytes, poor T-cell function with decreased proliferative response and lack of helper T-cell function for antibody isotype switching, and low immunoglobulins. B and NK cells were normal.
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)