Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia. [ https://clinicalgenome.org/affiliation/40080/ http://www.ncbi.nlm.nih.gov/pubmed/35960817 ]

Synonyms: TRAF3 haploinsufficiency

This is just here as a test because I lose it

Term information

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clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6299

creator

https://orcid.org/0000-0001-5208-3432

id

MONDO:0100513

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100513

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