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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-03-2009
Symbol RTDG
Location 1p35.1
Name reticular dysgenesis
Other name(s)
  • aleukocytosis
  • De Vaal disease
  • severe combined immunodeficiency with leukopenia
  • Corresponding gene AK2
    Main clinical features
  • congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions, in any cases associated to bilateral sensorineural deafness
  • absent myeloid elements from the bone marrow and absent lymphocytes from the thymus and spleen
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    defense and immunity
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function