Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person primary immunodeficiency disease

Class:IdDisease:5228860
_displayNameprimary immunodeficiency disease
_timestamp2014-01-14 17:53:05
created[InstanceEdit:5228861] Shamovsky, V, 2014-01-14
definitionAn immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
identifier612
nameprimary immunodeficiency disease
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymimmune deficiency disorder
immunodeficiency syndrome
hypoimmunity
(disease)[EntityWithAccessionedSequence:5228805] NFKBIA M37K [cytosol] [Homo sapiens]
[Complex:5228828] NFKBIA variants:NFkB complex [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5228846] NFKBIA S32I [cytosol] [Homo sapiens]
[DefinedSet:5228851] NFKBIA(37-317) variant [cytosol] [Homo sapiens]
[DefinedSet:5228863] NFKBIA variants [cytosol] [Homo sapiens]
[DefinedSet:5262847] TNFalpha associated IKBKG variants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5262858] IKBKG C417R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5262862] IKBKG C417F [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5262868] IKBKG M407V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5262879] IKBKG L153R [cytosol] [Homo sapiens]
List all 81 refering instances
[Change default viewing format]
No pathways have been reviewed or authored by primary immunodeficiency disease (5228860)