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GENATLAS PHENOTYPE
last update : 16-01-2015
Symbol IMD12
Location 18q21.32
Name immunodeficiency 12
Corresponding gene MALT1
Main clinical features
  • primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)