Browsing by Author "Parrott, RE"
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. Armstrong, M; Buckley, Rebecca Hatcher; Goldstein, David Benjamin; Gorentla, B; Huang, H; MacIver, Nancie Jo; McHale, D; ... (14 authors) (J Clin Immunol, 2016-07)The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated ...
Teigland, CL; Parrott, RE; Buckley, Rebecca Hatcher (Bone Marrow Transplant, 2013-08)SCID is a fatal syndrome caused by mutations in at least 13 different genes. It is characterized by the absence of T cells. Immune reconstitution can be achieved through nonablative related donor BMT. However, the first ...
Buckley, Rebecca Hatcher; Moser, BK; Parrott, RE; Sajaroff, E; Sarzotti-Kelsoe, Marcella; Win, CM (Journal of Clinical Immunology, 2012)