A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly
Open Access
- 16 December 2009
- journal article
- Published by Ferrata Storti Foundation (Haematologica) in Haematologica
- Vol. 95 (4), 688-689
- https://doi.org/10.3324/haematol.2009.018010
Abstract
X-linked lymphoproliferative syndrome (XLP) is a rare inherited primary immunodeficiency. It is clinically characterized by hemophagocytic lymphohistiocytosis (HLH), which usually develops in response to an Epstein-Barr virus (EBV) infection, dysgammaglobulinemia and malignant lymphoma. Most casesKeywords
This publication has 7 references indexed in Scilit:
- A rapid flow cytometric screening test for X‐linked lymphoproliferative disease due to XIAP deficiencyCytometry Part B: Clinical Cytometry, 2009
- XIAP deficiency in humans causes an X-linked lymphoproliferative syndromeNature, 2006
- Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family membersBlood, 2005
- Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detectionInternational Immunology, 2002
- Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndromeProceedings of the National Academy of Sciences, 1998
- Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding geneNature Genetics, 1998
- The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAMNature, 1998