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- PASLI_disease abstract "PASLI disease is a rare genetic disorder of the immune system. PASLI stands for “p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.” The immunodeficiency manifests as recurrent infections usually starting in childhood. These include bacterial infections of the respiratory system and chronic viremia due to Epstein-Barr virus (EBV) and/or cytomegalovirus (CMV). Individuals with PASLI disease also have an increased risk of EBV-associated lymphoma. Investigators Carrie Lucas, Michael Lenardo, and Gulbu Uzel at the National Institute of Allergy and Infectious Diseases at the U.S. National Institutes of Health and Sergey Nejentsev at the University of Cambridge, UK simultaneously described a mutation causing this condition which they called Activated PI3K Delta Syndrome (APDS).".
- PASLI_disease omim "615513616005".
- PASLI_disease thumbnail Protein_domains_of_p110delta.png?width=300.
- PASLI_disease wikiPageExternalLink sinopulmonary.
- PASLI_disease wikiPageID "42008669".
- PASLI_disease wikiPageLength "10248".
- PASLI_disease wikiPageOutDegree "59".
- PASLI_disease wikiPageRevisionID "695777199".
- PASLI_disease wikiPageWikiLink Activated_PI3K_Delta_Syndrome.
- PASLI_disease wikiPageWikiLink Adaptive_immune_system.
- PASLI_disease wikiPageWikiLink Amino_acid.
- PASLI_disease wikiPageWikiLink Antibody.
- PASLI_disease wikiPageWikiLink Catalysis.
- PASLI_disease wikiPageWikiLink Category:Genetic_disorders.
- PASLI_disease wikiPageWikiLink Cell_membrane.
- PASLI_disease wikiPageWikiLink Cell_signaling.
- PASLI_disease wikiPageWikiLink Cell_surface_receptor.
- PASLI_disease wikiPageWikiLink Chromosome_1_(human).
- PASLI_disease wikiPageWikiLink Cytomegalovirus.
- PASLI_disease wikiPageWikiLink Cytopenia.
- PASLI_disease wikiPageWikiLink Dominance_(genetics).
- PASLI_disease wikiPageWikiLink Enzyme.
- PASLI_disease wikiPageWikiLink Epstein–Barr_virus.
- PASLI_disease wikiPageWikiLink Expressivity_(genetics).
- PASLI_disease wikiPageWikiLink GTPase.
- PASLI_disease wikiPageWikiLink Genetic_disorder.
- PASLI_disease wikiPageWikiLink Hepatosplenomegaly.
- PASLI_disease wikiPageWikiLink Immune_system.
- PASLI_disease wikiPageWikiLink Immunodeficiency.
- PASLI_disease wikiPageWikiLink Immunoglobulin_A.
- PASLI_disease wikiPageWikiLink Immunoglobulin_M.
- PASLI_disease wikiPageWikiLink Infection.
- PASLI_disease wikiPageWikiLink Lymphadenopathy.
- PASLI_disease wikiPageWikiLink Lymphoma.
- PASLI_disease wikiPageWikiLink Lymphoproliferative_disorders.
- PASLI_disease wikiPageWikiLink Mechanistic_target_of_rapamycin.
- PASLI_disease wikiPageWikiLink Mendelian_inheritance.
- PASLI_disease wikiPageWikiLink Mutation.
- PASLI_disease wikiPageWikiLink National_Institute_of_Allergy_and_Infectious_Diseases.
- PASLI_disease wikiPageWikiLink National_Institutes_of_Health.
- PASLI_disease wikiPageWikiLink P110δ.
- PASLI_disease wikiPageWikiLink PIK3R1.
- PASLI_disease wikiPageWikiLink Pathogen.
- PASLI_disease wikiPageWikiLink Phosphatidylinositol.
- PASLI_disease wikiPageWikiLink Phosphorylation.
- PASLI_disease wikiPageWikiLink Protein_domain.
- PASLI_disease wikiPageWikiLink RNA_splicing.
- PASLI_disease wikiPageWikiLink Regulation.
- PASLI_disease wikiPageWikiLink Respiratory_system.
- PASLI_disease wikiPageWikiLink Senescence.
- PASLI_disease wikiPageWikiLink Sirolimus.
- PASLI_disease wikiPageWikiLink T_cell.
- PASLI_disease wikiPageWikiLink Telomere.
- PASLI_disease wikiPageWikiLink University_of_Cambridge.
- PASLI_disease wikiPageWikiLink Viremia.
- PASLI_disease wikiPageWikiLink White_blood_cell.
- PASLI_disease wikiPageWikiLink File:Proposed_model_for_the_effects_of_activating_substitutions_in_p110δ.png.
- PASLI_disease wikiPageWikiLink File:Protein_domains_of_p110delta.png.
- PASLI_disease wikiPageWikiLinkText "PASLI disease".
- PASLI_disease wikiPageWikiLinkText "PASLI".
- PASLI_disease name "PASLI Disease".
- PASLI_disease omim "615513616005".
- PASLI_disease wikiPageUsesTemplate Template:Infobox_disease.
- PASLI_disease wikiPageUsesTemplate Template:Orphan.
- PASLI_disease subject Category:Genetic_disorders.
- PASLI_disease hypernym Disorder.
- PASLI_disease type Disease.
- PASLI_disease type Thing.
- PASLI_disease type Q12136.
- PASLI_disease comment "PASLI disease is a rare genetic disorder of the immune system. PASLI stands for “p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.” The immunodeficiency manifests as recurrent infections usually starting in childhood. These include bacterial infections of the respiratory system and chronic viremia due to Epstein-Barr virus (EBV) and/or cytomegalovirus (CMV). Individuals with PASLI disease also have an increased risk of EBV-associated lymphoma.".
- PASLI_disease label "PASLI disease".
- PASLI_disease sameAs Q17152451.
- PASLI_disease sameAs m.0_s1bd2.
- PASLI_disease sameAs Q17152451.
- PASLI_disease wasDerivedFrom PASLI_disease?oldid=695777199.
- PASLI_disease depiction Protein_domains_of_p110delta.png.
- PASLI_disease isPrimaryTopicOf PASLI_disease.
- PASLI_disease name "PASLI Disease".