IMD65
MCID: IMM218
MIFTS: 16

Immunodeficiency 65 Viral Infections (IMD65)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 65 Viral Infections

MalaCards integrated aliases for Immunodeficiency 65 Viral Infections:

Name: Immunodeficiency 65 Viral Infections 56
Immunodeficiency 65, Susceptibility to Viral Infections 56 73 6
Imd65 56 73
Immunodeficiency 65 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
patients may have adverse response to vaccination with live attenuated vaccines
treatment with iv ig offers clinical benefit
two unrelated families have been reported (last curated october 2019)


Classifications:



External Ids:

OMIM 56 618648
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
MedGen 41 CN262580

Summaries for Immunodeficiency 65 Viral Infections

OMIM : 56 Immunodeficiency-65 (IMD65) is an autosomal recessive immunologic disorder characterized by onset of recurrent and severe viral infections from early infancy. Affected individuals have impaired ability to fight viral infections, resulting in clinically significant disease, including pneumonia, bronchiectasis, and septic shock. Laboratory studies may show lymphopenia or hypogammaglobulinemia, particularly during infection; more detailed studies show an impaired cellular type I interferon response. Treatment with intravenous immunoglobulin (IVIg) is beneficial. Important features of this disorder include the rapid development of septic shock, as well as poor outcomes after vaccination with live attenuated vaccines; such vaccines should never be administered to patients with known impaired interferon responses (summary by Hernandez et al., 2018 and Bravo Garcia-Morato et al., 2019). (618648)

MalaCards based summary : Immunodeficiency 65 Viral Infections, is also known as immunodeficiency 65, susceptibility to viral infections. An important gene associated with Immunodeficiency 65 Viral Infections is IRF9 (Interferon Regulatory Factor 9). Affiliated tissues include t cells.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 65: An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines.

Related Diseases for Immunodeficiency 65 Viral Infections

Symptoms & Phenotypes for Immunodeficiency 65 Viral Infections

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
gingivitis
stomatitis

Abdomen Gastrointestinal:
gastroenteritis

Respiratory:
respiratory infections, viral, recurrent

Respiratory Lung:
bronchiectasis

Immunology:
increased susceptibility to viral infections
increased susceptibility to septic shock
lymphocytes may be decreased during infection
decreased immunoglobulin levels, variable (in some patients)
impaired t-cell lymphoproliferative response to stimulation, mild

Laboratory Abnormalities:
impaired interferon response to viruses
impaired control of viral replication

Clinical features from OMIM:

618648

Drugs & Therapeutics for Immunodeficiency 65 Viral Infections

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 65 Viral Infections

Genetic Tests for Immunodeficiency 65 Viral Infections

Anatomical Context for Immunodeficiency 65 Viral Infections

MalaCards organs/tissues related to Immunodeficiency 65 Viral Infections:

40
T Cells

Publications for Immunodeficiency 65 Viral Infections

Articles related to Immunodeficiency 65 Viral Infections:

# Title Authors PMID Year
1
Impaired control of multiple viral infections in a family with complete IRF9 deficiency. 6 56
30826365 2019
2
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. 56 6
30143481 2018

Variations for Immunodeficiency 65 Viral Infections

ClinVar genetic disease variations for Immunodeficiency 65 Viral Infections:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF9 NM_006084.5(IRF9):c.577+1G>TSNV risk factor 694057 14:24633169-24633169 14:24163960-24163960
2 IRF9 NM_006084.5(IRF9):c.991G>A (p.Asp331Asn)SNV risk factor 694058 14:24634164-24634164 14:24164955-24164955

Expression for Immunodeficiency 65 Viral Infections

Search GEO for disease gene expression data for Immunodeficiency 65 Viral Infections.

Pathways for Immunodeficiency 65 Viral Infections

GO Terms for Immunodeficiency 65 Viral Infections

Sources for Immunodeficiency 65 Viral Infections

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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