IMD65
MCID: IMM218
MIFTS: 18

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 57
Immunodeficiency 65, Susceptibility to Viral Infections 57 73 6
Imd65 57 73
Immunodeficiency 65 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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)


HPO:

31
immunodeficiency 65 viral infections:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618648
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153

Summaries for Immunodeficiency 65 Viral Infections

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 65 Viral Infections, also known as immunodeficiency 65, susceptibility to viral infections, is related to immunodeficiency 65. An important gene associated with Immunodeficiency 65 Viral Infections is IRF9 (Interferon Regulatory Factor 9). Related phenotypes are gingivitis and bronchiectasis

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

Diseases related to Immunodeficiency 65 Viral Infections via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 65 11.5

Symptoms & Phenotypes for Immunodeficiency 65 Viral Infections

Human phenotypes related to Immunodeficiency 65 Viral Infections:

31
# Description HPO Frequency HPO Source Accession
1 gingivitis 31 HP:0000230
2 bronchiectasis 31 HP:0002110
3 recurrent viral infections 31 HP:0004429
4 stomatitis 31 HP:0010280
5 recurrent gastroenteritis 31 HP:0031123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 57 6
30826365 2019
2
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. 57 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>T SNV risk factor 694057 rs1594389703 14:24633169-24633169 14:24163960-24163960
2 IRF9 NM_006084.5(IRF9):c.991G>A (p.Asp331Asn) SNV risk factor 694058 rs1594390415 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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