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PASLI disease

Diseases of the Blood and Immune Mechanism

PASLI disease is a rare genetic disorder of the immune system. The name abbreviates "p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency", and the same condition was independently described under the name activated PI3K delta syndrome (APDS). The immunodeficiency shows itself as recurrent infections that usually begin in childhood, including bacterial infections of the respiratory system and chronic viremia from Epstein-Barr virus or cytomegalovirus. People with the disease also carry an increased risk of Epstein-Barr virus associated lymphoma. According to the source lead, investigators at the US National Institutes of Health and at the University of Cambridge simultaneously identified the causative mutation. The lead gives no prevalence figure or treatment guidance, so none are stated here.

Facts
Classification
Body System
Lymphatic or Immune System 1
ICD-10 Chapter
III: Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Sources
1. PASLI disease (Wikipedia)
Lead paragraph
Quote, Lead paragraph
PASLI disease is a rare genetic disorder of the immune system.
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