Printable factfile
Reticular dysgenesis is a very rare autosomal recessive form of
SCID, which generally leads to early death. The disorder usually manifests early in the neonatal period, with the sign of sepsis as the first day of life, mainly caused by severe
leukopenia. The disease is characterized by lack or very reduced levels of B and
T cells, thrombocytes involved in blood clotting, and
granulocytes
that form the majority of blood
leukocytes, due to the failed maturation of not only lymphoid but also of myeloid precursor cells.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- The only curative therapy is stem cell transplantation. Other recommendations include intravenous gamma-globulin infusion, irradiation of all blood products, antibiotherapy.
- Reticular dysgenesis, eMedicine
- National Marrow Donor Program