Reticular dysgenesis

Reticular dysgenesis (De Vaal's disease, hematopoietic hypoplasia, OMIM: 267500) is one of the rarest forms of severe combined immunodeficiency. Congenital agranulocytosis and lymphopenia associated with thymic and lymph node hypoplasia are characteristic. Granulocytes and lymphocytes are missing in the peripheral blood and bone marrow, the impairment of differentiation is already at the level of stem cells (and affects the myeloid and lymphoid lineages). The disease is inherited autosomal recessively, due to a mutation in the AK2 gene (Adenylate Kinase 2) on chromosome 1 (1p34).

Related articles

 * Primary immunodeficiency
 * Severe combined immunodeficiency

Source

 * ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. Poslední revize 9. 6. 2006, [cit. 16. 12. 2009]. .