IMD53
MCID: IMM151
MIFTS: 19

Immunodeficiency 53 (IMD53)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 53

MalaCards integrated aliases for Immunodeficiency 53:

Name: Immunodeficiency 53 57 12 72 29 6 15
Imd53 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
one consanguineous family of irish descent has been reported (last curated july 2017)


HPO:

31
immunodeficiency 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111992
OMIM® 57 617585
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
SNOMED-CT via HPO 68 258211005 36440009 432788009
UMLS 70 C4539811

Summaries for Immunodeficiency 53

UniProtKB/Swiss-Prot : 72 Immunodeficiency 53: An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins.

MalaCards based summary : Immunodeficiency 53, is also known as imd53. An important gene associated with Immunodeficiency 53 is RELB (RELB Proto-Oncogene, NF-KB Subunit). Related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has material basis in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32.

More information from OMIM: 617585 PS300755

Related Diseases for Immunodeficiency 53

Symptoms & Phenotypes for Immunodeficiency 53

Human phenotypes related to Immunodeficiency 53:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 recurrent respiratory infections 31 HP:0002205
3 recurrent otitis media 31 HP:0000403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Immunology:
recurrent infections
impaired t-cell proliferative response to multiple antigens
increased cd4+:cd8+ ratio
t-cell developmental and functional defects
impaired ability to produce specific immunoglobulins
more
Respiratory:
recurrent respiratory infections

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM®:

617585 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 53

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 53

Genetic Tests for Immunodeficiency 53

Genetic tests related to Immunodeficiency 53:

# Genetic test Affiliating Genes
1 Immunodeficiency 53 29 RELB

Anatomical Context for Immunodeficiency 53

Publications for Immunodeficiency 53

Articles related to Immunodeficiency 53:

# Title Authors PMID Year
1
The effects of RelB deficiency on lymphocyte development and function. 57 6
26385063 2015

Variations for Immunodeficiency 53

ClinVar genetic disease variations for Immunodeficiency 53:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RELB NM_006509.4(RELB):c.1191C>A (p.Tyr397Ter) SNV Pathogenic 430895 rs745463649 GRCh37: 19:45535991-45535991
GRCh38: 19:45032733-45032733
2 RELB NM_006509.4(RELB):c.919C>T (p.Arg307Ter) SNV Likely pathogenic 973569 GRCh37: 19:45532178-45532178
GRCh38: 19:45028920-45028920
3 RELB NM_006509.4(RELB):c.401AGC[3] (p.Gln135dup) Microsatellite Uncertain significance 996038 GRCh37: 19:45515430-45515431
GRCh38: 19:45012172-45012173

Expression for Immunodeficiency 53

Search GEO for disease gene expression data for Immunodeficiency 53.

Pathways for Immunodeficiency 53

GO Terms for Immunodeficiency 53

Biological processes related to Immunodeficiency 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 RELB ADM2

Sources for Immunodeficiency 53

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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