MCID: IMM151
MIFTS: 13

Immunodeficiency 53

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 53

MalaCards integrated aliases for Immunodeficiency 53:

Name: Immunodeficiency 53 57 75 6
Imd53 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617585
MeSH 44 D007153

Summaries for Immunodeficiency 53

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include t cells and skin.

Description from OMIM: 617585

Related Diseases for Immunodeficiency 53

Symptoms & Phenotypes for Immunodeficiency 53

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Respiratory:
recurrent respiratory infections

Head And Neck Ears:
otitis media, recurrent

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

Clinical features from OMIM:

617585

Drugs & Therapeutics for Immunodeficiency 53

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 53

Genetic Tests for Immunodeficiency 53

Anatomical Context for Immunodeficiency 53

MalaCards organs/tissues related to Immunodeficiency 53:

41
T Cells, Skin

Publications for Immunodeficiency 53

Variations for Immunodeficiency 53

ClinVar genetic disease variations for Immunodeficiency 53:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RELB NM_006509.3(RELB): c.1191C> A (p.Tyr397Ter) single nucleotide variant Pathogenic rs745463649 GRCh38 Chromosome 19, 45032733: 45032733
2 RELB NM_006509.3(RELB): c.1191C> A (p.Tyr397Ter) single nucleotide variant Pathogenic rs745463649 GRCh37 Chromosome 19, 45535991: 45535991

Expression for Immunodeficiency 53

Search GEO for disease gene expression data for Immunodeficiency 53.

Pathways for Immunodeficiency 53

GO Terms for Immunodeficiency 53

Sources for Immunodeficiency 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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