Reticular dysgenesis
| Reticular dysgenesis | |
|---|---|
| Classification and external resources | |
| ICD-10 | D81.0 |
Reticular dysgenesis is a rare genetic disorder of the bone marrow resulting in complete absence of granulocytes and decreased number of abnormal lymphocytes. Production of red blood cells (erythrocytes) and megakaryocytes (platelet precursors) is not affected. There is also poor development of the secondary lymphoid organs.
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID). The cause of reticular dysgenesis is the inability of granulocyte precursors to form granules secondary to mitochondrial adenylate kinase 2 malfunction.
Further reading
- Bertrand Y, Müller SM, Casanova JL, Morgan G, Fischer A, Friedrich W (May 2002). "Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients". Bone Marrow Transplant. 29 (9): 759–62. doi:10.1038/sj.bmt.1703531. PMID 12040473.
- Cham B, Bonilla MA, Winkelstein J (April 2002). "Neutropenia associated with primary immunodeficiency syndromes". Semin. Hematol. 39 (2): 107–12. doi:10.1053/shem.2002.31916. PMID 11957193.
- Emile JF, Geissmann F, Martin OC et al. (July 2000). "Langerhans cell deficiency in reticular dysgenesis". Blood 96 (1): 58–62. PMID 10891430.
- Ohashi Y (2000). "[Reticular dysgenesis]". Ryoikibetsu Shokogun Shirizu (in Japanese) (32): 35–7. PMID 11212742.