Lymphoproliferative syndrome, ebv-associated, autosomal, 1

Common Name(s)

Lymphoproliferative syndrome, ebv-associated, autosomal, 1

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by {3:Stepensky et al., 2011}; {2:Linka et al., 2012}). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 ({308240}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lymphoproliferative syndrome, ebv-associated, autosomal, 1" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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