Associated Papers
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
Blackburn PR et al.
Journal of Neuropathology and Experimental Neurology, 2019
Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.
Chiang SCC et al.
Frontiers in Immunology, 2019
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.
Marsh RA et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2014
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE et al.
Cytometry. Part B, Clinical Cytometry, 2014
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