Details of Disease | DrugMAP

General Information of Disease (ID: DISFX7J5)

Disease Name	Hyper-IgE recurrent infection syndrome 4, autosomal recessive
Synonyms	HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4; hyper-IgE recurrent infection syndrome 4B, autosomal recessive
Disease Hierarchy	DIS6W0DT: Hyper-IgE syndrome DISFX7J5: Hyper-IgE recurrent infection syndrome 4, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0032796 UMLS CUI C5193141 OMIM ID 618523 MedGen ID 1673363

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL6ST	OT1N9C70	Strong	Autosomal recessive	[1]
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References

1	A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.