Article
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
The Journal of experimental medicine - 8 Feb 2016
Chan Alice Y, Punwani Divya, Kadlecek Theresa A, Cowan Morton J, Olson Jean L, Mathes Erin F, Sunderam Uma, Fu Shu Man, Srinivasan Rajgopal, Kuriyan John, Brenner Steven E, Weiss Arthur, Puck Jennifer M
Abstract excerpt
A brother and sister developed a previously undescribed constellation of autoimmune manifestations within their first year of life, with uncontrollable bullous pemphigoid, colitis, and proteinuria. The boy had hemophilia due to a factor VIII autoantibody and nephrotic syndrome. Both children required allogeneic hematopoietic cell transplantation (HCT), which resolved their autoimmunity. The early onset, severity,...
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