Article
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Journal of clinical immunology - 1 Feb 2015
Punwani Divya, Wang Haopeng, Chan Alice Y, Cowan Morton J, Mallott Jacob, Sunderam Uma, Mollenauer Marianne, Srinivasan Rajgopal, Brenner Steven E, Mulder Arend, Claas Frans H J, Weiss Arthur, Puck Jennifer M
Abstract excerpt
PURPOSE: A male infant developed generalized rash, intestinal inflammation and severe infections including persistent cytomegalovirus. Family history was negative, T cell receptor excision circles were normal, and engraftment of maternal cells was absent. No defects were found in multiple genes associated with severe combined immunodeficiency. A 9/10 HLA matched unrelated hematopoietic cell transplant (HCT) led...
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