Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in immunodeficiency.

[2] If there is a mutation in the protein, that means that the mitochondria metabolism most likely will be altered and will not be able to provide enough energy to the hematopoietic stem cells.

[2] The immune system consists of specialized cells that work together to fight off bacteria, fungi and viruses.

[5] [6] Health professionals must look at a person's history, symptoms, physical exam and laboratory test in order to make a diagnosis.

[4] RD can only be treated temporarily through hematopoietic stem cell transplantation (HSCT) and cytokine therapy.

[4][8][9] Transplantation of stem cells are taken from the bone marrow, peripheral blood or umbilical cord of healthy, matched donors.

Bone marrow product is infused through a central vein over a period of several hours.

[citation needed] Recombinant granulocyte-macrophage colony-stimulating factor (rGM-CSF) can be used as a temporary cure.