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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-09-2017
Symbol IMD37
Location 1p22.3
Name Immunodeficiency 37
Corresponding gene BCL10
Main clinical features
  • primary combined immunodeficiency disorder resulting in death at age 3 years
  • gastroenteritis, otitis, and respiratory infections, viral influenza infection, respiratory syncytial virus (RSV) infection, and oral and diaper Candida infections
  • hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)