Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-11-2015

Symbol	SCIDP
Location	14q21.3
Name	severe combined immunodeficiency with POLE2 defect
Corresponding gene	POLE2
Main clinical features	combined immunodeficiency, facial dysmorphisms, and autoimmunity omphalitis and erythroderma in the neonatal period, systemic Bacillus Calmette-Guerin infection after immunization, and multiple respiratory infections subsequently
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)