Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12-09-2017
Symbol IMD53
Location 19q13.32
Name Immunodeficiency 53
Corresponding gene RELB
Main clinical features
  • primary immunodeficiency apparent from early infancy with recurrent upper and lower respiratory infections, urinary tract infection and polyarticular arthritis with joint swelling
  • primary T-cell defect with total serum immunoglobulin levels normal
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)