Signs and symptoms
Risk factors
Condition follows an autosomal recessive patternThe mutated gene must be inherited from both the mother and father
Both males and females must have an equal frequency of inheritance

Diagnosis
Health professionals must look at a persons history, symptoms, physical exam and laboratory test in order to make a diagnosis. If the results show patients with low levels of lymphocytes, absence of granulocytes or absence of thymus then the patient may be suspected to have RD. Treatment
RD can only be treated temporarily through hematopoietic stem cell transplantation (HSCT) and cytokine therapy. Hematopoietic stem cell transplantation
Transplantation of stem cells are taken from the bone marrow, peripheral blood or umbilical cord of healthy, matched donors. Hematopoietic stem cell transplantation (HSCT) involves intravenous infusion of stem cells to those who have either a damaged bone marrow or defective immune system. Transplantation is a simple process. Bone marrow product is infused through a central vein over a period of several hours. The hematopoietic cells are able to go to the bone marrow through tracking mechanisms. Patients who suffer from RD will now have more stem cells that can differentiate into immune cells. Cytokine Therapy
Recombinant granulocyte-macrophage colony-stimulating factor (rGM-CSF) can be used as a temporary cure. GM-CSF stimulates production of white blood cells. This cure is commonly used in patients who are awaiting bone marrow transplantation. Response to this cure can vary. Those with a more severe combined immunodeficiency may have no response to this therapy. Prognosis
The survival range is estimated to be 3 days to 17 weeks without treatment.
Sodium calcium edetate (sodium calcium EDTA), also known as edetate calcium disodium among other names, is a medication primarily used to treat lead poisoning, including both short-term and long-term lead poisoning. Sodium calcium edetate came into medical use in the United States in 1953. Chelation agent
Sodium calcium edetate is in the chelating agent family of medication. It is a salt of edetate with two sodium and one calcium atoms. It works by binding to a number of heavy metals, which renders them almost inert and allows them to leave the body in the urine.Edetate disodium is a different formulation which does not have the same effects. Medical use
Sodium calcium edetates primary use is to treat lead poisoning,
for which it is an alternative to succimer. It is given by slow injection into a vein or into a muscle.For lead encephalopathy sodium calcium edetate is typically used together with dimercaprol. It may also be used to treat plutonium poisoning. It does not appear to be useful for poisoning by tetra-ethyl lead. Side effects
Common side effects include pain at the site of injection. Other side effects may include kidney problems, diarrhea, fever, muscle pains, and low blood pressure. Benefits when needed in pregnancy are likely greater than the risks. History
Sodium calcium edetate came into medical use in the United States in 1953. It is on the World Health Organizations List of Essential Medicines. References
External links
"Sodium calcium edetate". U.S. National Library of Medicine. Drug Information Portal. U.S. National Institutes of Health.