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Clincal, Genetic and Proteinic Characteristics of X-linked Lymphoproliferative Disease

Author: YangZuo
Tutor: ZhaoXiaoDong
School: Chongqing Medical University
Course: Pediatrics
Keywords: X-linked lymphoproliferative disease SH2D1A BIRC4 SAP XIAP
CLC: R725.9
Type: Master's thesis
Year: 2011
Downloads: 44
Quote: 1
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Abstract


Background: XLP (X-linked lymphoproliferative disease) is an rare X-linked immunodeficiency disease which is characterized by extreme vulnerability to Epstein-Barr virus, hemophagocytic lymphohistiocytosis (HLH) and very high incidence of fatal infectious mononucleosis (FIM). The responsible gene for XLP has been identified as SH2D1A/SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis (XIAP)/BIRC4 which divided XLP into two types, XLP-1 and XLP-2. The major clinical phenotypes of XLP-1 include FIM (60%), lymphoproliferative disorder (30%) and dysgammaglobulinemia (30%). In addition, XLP-1 is associated with a variety of additional clinical phenotypes such as vasculitis, aplastic anemia and pulmonary lymphoid granulomatosis. More than 90% of patients with XLP-2 developed hemophagocytic lymphohistiocytosis (HLH), especially recurrent HLH. Accurate diagnosis of XLP prior to the onset of complications is also difficult since affected individuals are often asymptomatic. Most XLP patients died early in the childhood. The only definitive therapy method for this disease is allogeneic hematopoietic stem cell transplantation (HSCT).Objective: In this study we analyzed the clinical, immunological, genetic and proteinic characteristics of XLP for building useful understandings of pathogenetic features of this disease.Methods:We described the patients by performing SH2D1A and BIRC4 gene mutation analysis. The SAP and XIAP protein expression and natural killer T cell counts were analyzed by flow cytometry.Results:We analyzed 21 XLP-1-like patients and 25 XLP-2-like patients. All the XLP patients showed gene mutations of SH2D1A or BIRC4. Most of the patients showed a decreased or absent expression of XIAP protein except one patient who showed the nomal level. The population of NKT cells in patients with XLP-2 deficiency showed a significantly decrease comprare with the normal controls.Conclusion: We described Clinical and laboratory findings of seven XLP patients. Furthermore, the result demonstrated that flow cytometric analysis can be a rapid screening method for XLP diagnosis. This research provided useful understandings of pathogenetic features and clinical characteristics of this disease.

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CLC: > Medicine, health > Pediatrics > Children within the science > Systemic disease in children
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