Seven months old infant with rare immunodeficiency disorder saved by bone marrow transplantation at Manipal Hospitals

Manipal Hospitals recently saved a seven months old boy from Maldives who had Wiskott-Aldrich syndrome by bone marrow transplantation. Wiskott-Aldrich is an X-linked disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp).

The boy was on an anti-microbial prophylaxis, intravenous immunoglobulin, and was receiving treatment for intermittent eczema. The patient's condition was very serious and an urgent bone marrow transplantation could only save his life.

Dr. Mallikarjun Kalashetty, a clinical haemotologist at Manipal Hospitals, Bangalore found that human leukocyte antigens (HLA) typing of the boy and his siblings showed that his elder sister was a full match.

They discussed the role of allogeneic stem cell transplantation with the family, as it's a high-risk procedure. Upon their consent the child underwent the procedure at Manipal Hospital Bangalore successfully, with the help of stem cells from his elder sister. His defective marrow has been replaced completely by the healthy stem cells from his sister.

It is said children with such rare serious immunodeficiency disorders can be saved by timely bone marrow transplantation, if an appropriate donor is available.

Wiskott-Aldrich syndrome features include susceptibility to infections, microthrombocytopenia and eczema. Disease is X-linked recessive disorder, mainly affecting boys. Affected boys present in early childhood with a haemorrhagic diathesis due tothrombocytopenia; recurrent bacterial, viral and fungal infections; and extensive eczema.

They will need long term prophylactic antimicrobials, Intravenous immunoglobulin and other supportive measures. Despite the supportive care some of them will succumb to overwhelming infection or severe haemorrhage during the first decade of life.

The only curative treatment for these children is an allogeneic bone marrow transplantation, where in the affected infants will receive conditioning chemotherapy to destroy diseased marrow, and then it will be replaced by the healthy marrow from donors.