However, for more progressive cases, surgery and bone grafting are necessary. Eponym
It is named after Nicholas Hajdu (1908–1987), a Hungarian-English radiologist working in the UK and William D. Cheney, MD (1899–1985), a US radiologist. References
Further reading
External links
OMIM entry on Hajdu–Cheney syndrome
Acroosteolysis dominant type at Orphanet
Patients die due to bacterial or viral infections. Aggressive treatment with antibiotics is required and bone marrow transplant is common. Patients undergoing bone marrow transplant, specifically from a matched sibling, have a higher 5 year survival rate than those receiving a transplant from other donors. Research
Gene Therapy
Gene therapy is a relatively new concept in the field of SCID. This therapy is currently undergoing clinical trial and has cured a small number of children suffering from X-linked SCID and recessive allele SCID. Gene therapy aims to correct the underlying genetic abnormality in SCID. In the case of RD, the genetic abnormality would be AK2 malfunction. Stem cells are taken from an affected childs blood or bone marrow. Then in laboratory conditions the stem cells are manipulated and corrected with gene technology. They are then injected back into the patient. Similarly, in bone transplant, stem cells are able to find their way back through tracking mechanisms. References


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