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IMD53
MCID: IMM151
MIFTS: 16
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Immunodeficiency 53 (IMD53)
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency 53:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy one consanguineous family of irish descent has been reported (last curated july 2017) HPO:31Classifications: |
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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). Affiliated tissues include t cells and skin, and related phenotypes are recurrent respiratory infections and failure to thrive |
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Human phenotypes related to Immunodeficiency 53:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617585 |
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MalaCards organs/tissues related to Immunodeficiency 53:40
T Cells,
Skin
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Articles related to Immunodeficiency 53:
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Genes related to Immunodeficiency 53 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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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