Autosomal Recessive Hyper IgE Syndrome

[galyea123]

Label

Autosomal Recessive Hyper IgE Syndrome

Synonyms

No response

Synonym type

None

Definition

The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is inherited as an autosomal recessive trait and the first symptoms include the development of a dry, red, flaky skin rash (eczema).

Parent term

Hyper-IgE syndrome

Children term(s)

OMIM: 243700 615816 618282 618523 618944

ORCID Identifier

No response

Website URL

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=641368

Additional comments

Hi! I was not able to find this condition on MONDO, only subtypes.

[nicolevasilevsky]

Hi @galyea123
We have this term: MONDO:0957426 'autosomal recessive hyper-IgE syndrome'

Please reopen if further action is needed

[galyea123]

Thank you Nicole! No further action is needed (I do not know why I did not see it before)