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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
Aleukocytosis
Severe combined immunodeficiency with leukopenia
De vaal disease
Hematopoietic hypoplasia, generalized
SCID with leukocyte deficiency
Classification
- Combined B and T cell immunodeficiencies
- T-B- Severe combined immunodeficiency (SCID)
Inheritance
Autosomal recessive
OMIM
%267500 Reticular dysgenesia
Cross references
Genetically related immunodeficiencies
IDR factfile for RAG1 deficiency
Incidence
1 in 3-5 million people