IMD45
MCID: IMM152
MIFTS: 27

Immunodeficiency 45 (IMD45)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 45

MalaCards integrated aliases for Immunodeficiency 45:

Name: Immunodeficiency 45 57 12 72 29 6 15
Imd45 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two sibs have been reported (last curated november 2015)
sib a developed symptoms after routine mmr vaccination
sib b did not receive mmr vaccination and was asymptomatic in infancy


HPO:

31
immunodeficiency 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111994
OMIM® 57 616669
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
SNOMED-CT via HPO 68 258211005

Summaries for Immunodeficiency 45

UniProtKB/Swiss-Prot : 72 Immunodeficiency 45: An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination.

MalaCards based summary : Immunodeficiency 45, also known as imd45, is related to plasma protein metabolism disease and bacterial infectious disease. An important gene associated with Immunodeficiency 45 is IFNAR2 (Interferon Alpha And Beta Receptor Subunit 2), and among its related pathways/superpathways are Innate Immune System and Toll-like Receptor Signaling Pathway. Related phenotypes are post-vaccination measles and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has material basis in homozygous or compound heterozygous mutation in IFNAR2 on chromosome 21q22.11.

More information from OMIM: 616669 PS300755

Related Diseases for Immunodeficiency 45

Diseases related to Immunodeficiency 45 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 plasma protein metabolism disease 9.6 ELANE BTK
2 bacterial infectious disease 9.5 ELANE BTK
3 neutropenia 9.4 ELANE BTK

Symptoms & Phenotypes for Immunodeficiency 45

Human phenotypes related to Immunodeficiency 45:

31
# Description HPO Frequency HPO Source Accession
1 post-vaccination measles 31 very rare (1%) HP:0020088

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
increased susceptibility to certain viral infections
normal serologic immunoglobulin production to vaccination
impaired antiviral response to alpha- and beta-interferon signaling

Neurologic Central Nervous System:
encephalopathy in response to viral infection

Clinical features from OMIM®:

616669 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 45 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 8.8 BTK
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 8.8 BTK
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 8.8 IKBKB

MGI Mouse Phenotypes related to Immunodeficiency 45:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 BTK ELANE IFNAR2

Drugs & Therapeutics for Immunodeficiency 45

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 45

Genetic Tests for Immunodeficiency 45

Genetic tests related to Immunodeficiency 45:

# Genetic test Affiliating Genes
1 Immunodeficiency 45 29 IFNAR2

Anatomical Context for Immunodeficiency 45

Publications for Immunodeficiency 45

Articles related to Immunodeficiency 45:

# Title Authors PMID Year
1
Human IFNAR2 deficiency: Lessons for antiviral immunity. 6 57
26424569 2015
2
Sinopulmonary Complications in Subjects With Primary Immunodeficiency. 61
26957648 2016

Variations for Immunodeficiency 45

ClinVar genetic disease variations for Immunodeficiency 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFNAR2 NM_000874.5(IFNAR2):c.311del (p.Glu104fs) Deletion Pathogenic 218160 rs775739391 GRCh37: 21:34619112-34619112
GRCh38: 21:33246807-33246807
2 IFNAR2 NM_001289125.3(IFNAR2):c.841-102G>A SNV Uncertain significance 1029538 GRCh37: 21:34634996-34634996
GRCh38: 21:33262691-33262691

Expression for Immunodeficiency 45

Search GEO for disease gene expression data for Immunodeficiency 45.

Pathways for Immunodeficiency 45

Pathways related to Immunodeficiency 45 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 IKBKB IFNAR2 ELANE BTK
2
Show member pathways
12.54 IKBKB IFNAR2 BTK
3
Show member pathways
12.04 IKBKB IFNAR2 BTK
4
Show member pathways
11.92 IKBKB BTK
5
Show member pathways
11.82 IKBKB BTK
6
Show member pathways
11.78 IKBKB BTK
7
Show member pathways
11.74 IKBKB BTK
8
Show member pathways
11.71 IKBKB IFNAR2 BTK
9 11.69 IKBKB IFNAR2
10
Show member pathways
11.64 IKBKB BTK
11 11.41 IKBKB BTK
12
Show member pathways
11.36 IKBKB IFNAR2 BTK
13 11.27 IKBKB BTK

GO Terms for Immunodeficiency 45

Cellular components related to Immunodeficiency 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.62 IKBKB BTK

Biological processes related to Immunodeficiency 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Fc-epsilon receptor signaling pathway GO:0038095 9.26 IKBKB BTK
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.16 IKBKB BTK
3 response to virus GO:0009615 8.96 IKBKB IFNAR2
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.62 IKBKB BTK

Sources for Immunodeficiency 45

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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