ArticleJournal of immunological methods2010
Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.
Article in Journal of immunological methods, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 62 citations in OpenAlex.
- X-linked lymphoproliferative disease type 1: a clinical and genetic update.Frontiers in immunology · 2025Review
- A holistic approach to maximise diagnostic output in trio exome sequencing.Frontiers in pediatrics · 2023Article
- Stem cell transplantation for children with hemophagocytic lymphohistiocytosis: results from the HLH-2004 study.Blood advances · 2020Article
- Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.Inflammatory bowel diseases · 2020Review
- Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.Frontiers in immunology · 2019Review
- Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies.Frontiers in immunology · 2019Article
- Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity.Frontiers in immunology · 2019Review
- Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.BMC medical genetics · 2017Article
- How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.Blood · 2016Article
- Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.The Journal of allergy and clinical immunology · 2016Article
- X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.Journal of clinical immunology · 2015Review
- Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.The Journal of allergy and clinical immunology · 2014Article
- The diagnostic approach to monogenic very early onset inflammatory bowel disease.Gastroenterology · 2014Review
- Laboratory diagnosis of primary immunodeficiencies.Clinical reviews in allergy & immunology · 2014Review
- Hemophagocytic lymphohistiocytosis: review of etiologies and management.Journal of blood medicine · 2014Review
- Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.Arthritis research & therapy · 2012Review
- Diffuse large B-cell lymphoma in an adolescent female presenting with Epstein-Barr virus-driven hemophagocytic lymphohistiocytosis: a case report.Journal of medical case reports · 2012Article
- Clinical and genetic characteristics of XIAP deficiency in Japan.Journal of clinical immunology · 2012Article
- Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Cellular and molecular life sciences : CMLS · 2012Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
X-linked lymphoproliferative disease is a rare congenital immunodeficiency that is most often caused by mutations in SH2D1A, the gene encoding signaling lymphocyte activation molecule (SLAM)-associated protein (SAP). XLP caused by SAP deficiency is most often characterized by fulminant mononucleosis/EBV- associated hemophagocytic lymphohistiocytosis (HLH), lymphoma, and dysgammaglobulinemia. XLP has also been found to be caused by mutations in BIRC4, the gene encoding X-linked inhibitor of apoptosis (XIAP). Patients with XIAP deficiency often present with HLH or recurrent HLH, which may or may not be associated with EBV. XLP is prematurely lethal in the majority of cases. While genetic sequencing can provide a genetic diagnosis of XLP, a more rapid means of diagnosis of XLP is desirable. Rapid diagnosis is especially important in the setting of HLH, as this may hasten the initiation of life-saving medical treatments and expedite preparations for allogeneic hematopoietic cell transplantation (HCT). Flow cytometry offers a means to quickly screen patients for XLP. Flow cytometry can be used to measure lymphocyte SAP or XIAP protein expression, and can also be used to observe lymphocyte phenotypes and functional defects that are unique to XLP. This review will give a brief overview of the clinical manifestations and molecular basis of SAP deficiency and XIAP deficiency, and will focus on the use of flow cytometry for diagnosis of XLP.
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