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Chronic Inflammatory Demyelinating Polyneuropathy in a Patient with Adenosine Deaminase Deficiency Severe Combined Immunodeficiency: Case Report

Adenosine deaminase deficiency is a type of severe combined immunodeficiency that involves about 15% of all SCID cases. This form of SCID has low B cells, T cells, and NK cells. This condition is complex with many possible complications including neurological abnormalities. Guillainbarré syndrome is an acute inflammatory disease of the peripheral nerves that involves an autoimmune attack on myelin resulting in demyelination. Chronic Inflammatory Demyelinating Polyneuropathy is a chronic form of Guillainbarré syndrome that presents with progressive symptoms. We describe a 14 year old female with ADA-SCID who developed chronic inflammatory polyneuropathy that did not respond to IVIG, or plasmapheresis or prednisone but successfully treated with rituximab. Chronic Inflammatory Demyelinating Polyneuropathy, responsive to anti-CD20 monoclonal antibody, should be added to neurological complications in ADA-SCID patients.


Namrata Shah, David Petty, Christie Michael, Jay Lieberman and D. Betty Lew

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