Immunodeficiency 53 (IMD53)

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Disease Ontology 12 DOID:0111992 OMIM® 57 617585 OMIM Phenotypic Series 57 PS300755 MeSH 44 D007153

MedGen 41 C4539811 CN347330 SNOMED-CT via HPO 68 258211005 36440009 432788009 UMLS 70 C4539811

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

Clinical features from OMIM®:

617585 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 53

Search GEO for disease gene expression data for Immunodeficiency 53.