X-linked lymphoproliferative disease with a novel SH2D1A gene mutation
نویسندگان
چکیده
منابع مشابه
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
The hemophagocytic lymphohistiocytoses (HLH) comprise a heterogeneous group of disorders characterized by dysregulated activation of T cells and macrophages. Although some patients with HLH harbor perforin gene mutations, the cause of the remaining cases is not known. The phenotype of HLH bears a strong resemblance to X-linked lymphoproliferative disease (XLP), an Epstein-Barr virus (EBV)-assoc...
متن کاملAlterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin deficiencies. Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin deficiency leading to susceptibility to infec...
متن کاملX-Linked Lymphoproliferative Disease
2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed pat...
متن کاملSkin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
SH2D1A gene defects are the cause of X-linked lymphoproliferative disorder (XLP-1), a rare condition characterized by severe immune dysregulation. We present a patient lacking the typical symptoms of XLP-1, but experiencing a severe unusual skin condition encompassing features of dermatosclerosis and vesiculobullous skin disease. A maternal cousin of the patient was diagnosed with XLP-1 and fou...
متن کاملCLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome
X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin deficiencies. Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin deficiency leading to susceptibility to infec...
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ژورنال
عنوان ژورنال: Pediatric Blood & Cancer
سال: 2008
ISSN: 1545-5009,1545-5017
DOI: 10.1002/pbc.21216