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Encephalitis, acute, infection (viral)-induced, susceptibility to, 11(IIAE11)

MedGen UID:
1794151
Concept ID:
C5561941
Finding
Synonyms: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; ENCEPHALITIS, ACUTE, INFECTION-INDUCED (VIRAL), SUSCEPTIBILITY TO, 11; IIAE11
 
Gene (location): DBR1 (3q22.3)
 
Monarch Initiative: MONDO:0030334
OMIM®: 619441

Definition

Susceptibility to acute infection (viral)-induced encephalitis-11 (IIAE11) is an autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. The brainstem is specifically affected, suggesting a defect in tissue-specific and cell-intrinsic immunity. The disease is often fatal (summary by Zhang et al., 2018). For a discussion of genetic heterogeneity of susceptibility to acute infection (viral)-induced encephalitis or encephalopathy, see 610551. [from OMIM]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Mild global developmental delay
MedGen UID:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Viral encephalitis
MedGen UID:
116719
Concept ID:
C0243010
Disease or Syndrome
An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.

Professional guidelines

PubMed

Mohanty MC, Varose SY, Saxena VK
Sci Rep 2021 Sep 7;11(1):17751. doi: 10.1038/s41598-021-97166-x. PMID: 34493781Free PMC Article

Recent clinical studies

Diagnosis

Dockrell DH, Paya CV
Rev Med Virol 2001 Jan-Feb;11(1):23-36. doi: 10.1002/rmv.299. PMID: 11241800

Therapy

Ramos HJ, Lanteri MC, Blahnik G, Negash A, Suthar MS, Brassil MM, Sodhi K, Treuting PM, Busch MP, Norris PJ, Gale M Jr
PLoS Pathog 2012;8(11):e1003039. Epub 2012 Nov 29 doi: 10.1371/journal.ppat.1003039. PMID: 23209411Free PMC Article
Dockrell DH, Paya CV
Rev Med Virol 2001 Jan-Feb;11(1):23-36. doi: 10.1002/rmv.299. PMID: 11241800

Prognosis

Ramos HJ, Lanteri MC, Blahnik G, Negash A, Suthar MS, Brassil MM, Sodhi K, Treuting PM, Busch MP, Norris PJ, Gale M Jr
PLoS Pathog 2012;8(11):e1003039. Epub 2012 Nov 29 doi: 10.1371/journal.ppat.1003039. PMID: 23209411Free PMC Article

Clinical prediction guides

Smith DR, Hollidge B, Daye S, Zeng X, Blancett C, Kuszpit K, Bocan T, Koehler JW, Coyne S, Minogue T, Kenny T, Chi X, Yim S, Miller L, Schmaljohn C, Bavari S, Golden JW
PLoS Negl Trop Dis 2017 Jan;11(1):e0005296. Epub 2017 Jan 9 doi: 10.1371/journal.pntd.0005296. PMID: 28068342Free PMC Article

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