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Browse result for X-linked lymphoproliferative syndrome

※ introduction

    X-linked lymphoproliferative disease (also known as Duncan disease:?86? or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 (XLP Type 1) and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased dramatically since its discovery in the 1970s.

Reference
Wiki: X-linked lymphoproliferative syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00639P98170331
XIAP
E3 ubiquitin-protein ligase XIAP
Homo sapiens
PTMD00510P062393932
LCK
Tyrosine-protein kinase Lck
Homo sapiens
PTMD02957O608804068
SH2D1A
SH2 domain-containing protein 1A
Homo sapiens