Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614849
http://purl.bioontology.org/ontology/OMIM/614849
Preferred Name

IMMUNODEFICIENCY 132A
Synonyms
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3
IMD132A
IIAE5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3
IMD132A
IIAE5
prefLabel
IMMUNODEFICIENCY 132A
Gene Symbol
CD40BP
TRAF3
CAP1
LAP1
CRAF1
IMD132A
IMD132B
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Scope Statement
Two unrelated patients have been reported (last curated February 2025) [MISCELLANEOUS]
Variable age at onset [MISCELLANEOUS]
De novo mutation (confirmed in 1 of 2 patients) [MISCELLANEOUS]
Caused by mutation in the TNF receptor-associated factor 3 gene (TRAF3, 601896.0001) [MOLECULAR BASIS]
type
Has manifestation
tui
T033
Gene Locus
14q32.32
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614849
Semantic type UMLS property
Has inheritance type
cui
C3553868
OMIM Entry Type
3
OMIM MimType Value
pound
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