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Apollo Hospitals cures a one year old Mauritian child with a rare genetic autoimmune disease called the IPEX syndrome

Posted by Apollo Hospitals | 28 Apr,2014

The Immune Dysregulation Polyendocrinopathy Enteropathy X-linked Syndrome [IPEX] is a rare genetic autoimmune disease due to mutations in the FOXP3 gene, located on the X-chromosome. Affected males are present with an early onset of severe Enteropathy , usually accompanied by Insulin-Dependent diabetes, elevated serum IgE and Dermatitis.

The other autoimmune symptoms include Hypothyroidism, Anaemia, Thrombocytopenia and Neutropenia. The onset in the severe form of the disease occurs within the first month of life and can be rapidly fatal. The use of Allogeneic Haematopoietic stem cell (HSCT) transplantation has been limited but, when performed before severe autoimmunity develops, can be an effective cure.

A well matched cord blood unit was identified in a New York cord blood bank and was imported to Chennai for transplantation. The new cells were transfused into Damien on 14/11/2013 and he was supported all through until his immune system was replaced entirely by the new cord blood stem cells.

The child was stabilized over 8 weeks by an expert multidisciplinary team consisting Pediatric Intensivists, Endocrinologists, Gastroenterologists, Infectious Disease Specialists, Dermatologists and a team of dedicated nurses.

Damien recovered over the next few weeks and soon he could talk and walk and eat new food every day. In March 2014 he returned back home happy and healthy. Team Apollo gave this child a gift a new life. Damien is now freed from the risk of infections!

 

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Posted by:Apollo Hospitals
28 Apr,2014
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