Reticular dysgenesis

Reticular dysgenesis is a rare form of severe immunodeficiency that is usually fatal unless a successful stem cell transplant is performed. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. In 1959, de Vaal and Seynhaeve first described this disorder as RD. To date, fewer than 30 cases have been described.

Alternative names

Reticular dysgenesia

Reticular dysgenesis

Congenital aleukia


Severe combined immunodeficiency with leukopenia

De vaal disease

Hematopoietic hypoplasia, generalized

SCID with leukocyte deficiency


  • Combined B and T cell immunodeficiencies
    • T-B- Severe combined immunodeficiency (SCID)


Autosomal recessive


%267500 Reticular dysgenesia


1 in 3-5 million people