IMD53
MCID: IMM151
MIFTS: 18
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Immunodeficiency 53 (IMD53)
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency 53:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy one consanguineous family of irish descent has been reported (last curated july 2017) HPO:31Classifications: |
UniProtKB/Swiss-Prot :
73
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. |
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Human phenotypes related to Immunodeficiency 53:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617585 (Updated 05-Mar-2021) |
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Articles related to Immunodeficiency 53:
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ClinVar genetic disease variations for Immunodeficiency 53:6
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Search
GEO
for disease gene expression data for Immunodeficiency 53.
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