Adriana van der Merwe is a 6 year old girl, living in Johannesburg, South Africa. On September 9th, 2002 Adriana was diagnosed as having SCID - severe combined immunodeficiency caused by purine nucleoside phosphorylase (PNP) deficiency .
SCID (PNP) deficiency is a very rare genetic disease, initially described in 1975; since then 32 other patients with the disorder have been documented. Since this disease is very rare, not much is known about it.
Adriana's doctor, Dr. Michael Loubser, (011 462-5580) stated the following in his assessment: "Long-term outlook and management: This is a very rare disease, less than 40 cases have been reported in the literature. Adriana is the 3rd patient with PNP deficiency that I have treated in the past 10 years. Unfortunately this disease carries a poor prognosis. Twenty nine of the 34 informative cases have died. Sixteen deaths were due to infections including three to chicken pox. Five were due to tumors (four lymphoma and one lymphosarcoma) and three died of GvHD following bone marrow transplantation."
Click here to read Dr Loubser's full assessment: