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GENATLAS PHENOTYPE
last update : 01-09-2017
Symbol IMD19
Location 11q23.3
Name Immunodeficiency 19
Other name(s) severe combined immunodeficiency lacking T cells
Corresponding gene CD3D
Other symbol(s) SCIDTD
Main clinical features
  • defective cellular and humoral immune function, in infancy recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus
  • severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections
  • disorder is lethal in early childhood without bone marrow transplantation
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)