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- Activated_PI3K_Delta_Syndrome abstract "Activated PI3K delta Syndrome (APDS, also known as PASLI disease) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene which encodes the p110δ catalytic subunit of PI3Kδ.Further reading:APDS Syndrome ([1])Genetics Home Reference entry: APDS ([2])Online Mendelian Inheritance in Man: APDS (OMIM #615513).Key references:Jou ST, Chien YH, Yang YH, Wang TC, Shyur SD, Chou CC, Chang ML, Lin DT, Lin KH, Chiang BL. Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology. Int J Immunogenet 2006, 33:361-369.Angulo, I., O. Vadas, F. Garçon, E. Banham-Hall, V. Plagnol, T.R. Leahy, H. Baxendale, T. Coulter, J. Curtis, C. Wu, K. Blake-Palmer, O. Perisic, D. Smyth, M. Maes, C. Fiddler, J. Juss, D. Cilliers, G. Markelj, A. Chandra, G. Farmer, A. Kielkowska, J. Clark, S. Kracker, M. Debré, C. Picard, I. Pellier, N. Jabado, J.A. Morris, G. Barcenas-Morales, A. Fischer, L. Stephens, P. Hawkins, J.C. Barrett, M. Abinun, M. Clatworthy, A. Durandy, R. Doffinger, E. Chilvers, A.J. Cant, D. Kumararatne, K. Okkenhaug, R.L. Williams, A. Condliffe, and S. Nejentsev. Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science, 2013.Vol. 34:866-871.Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G.Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014. Vol 15, Pages:88–97.Kracker, S., J. Curtis, M. A. Ibrahim, A. Sediva, J. Salisbury, V. Campr, M. Debre, J. D. Edgar, K. Imai, C. Picard, J. L. Casanova, A. Fischer, S. Nejentsev, and A. Durandy. 2014.Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome. JACI 2014 134:233-236 e233.Crank, M. C., J. K. Grossman, S. Moir, S. Pittaluga, C. M. Buckner, L. Kardava, A. Agharahimi, H. Meuwissen, J. Stoddard, J. Niemela, H. Kuehn, and S. D. Rosenzweig. 2014.Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility. J Clin Immunol 2014. 34:272-276.".
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink s10875-014-0012-9.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink j.jaci.2014.02.020.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink j.1744-313X.2006.00627.x.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink ni.2771.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink science.1243292.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink activated-pi3k-delta-syndrome.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink www.apdsyndrome.org.
- Activated_PI3K_Delta_Syndrome wikiPageExternalLink 615513.
- Activated_PI3K_Delta_Syndrome wikiPageID "45603901".
- Activated_PI3K_Delta_Syndrome wikiPageLength "2911".
- Activated_PI3K_Delta_Syndrome wikiPageOutDegree "7".
- Activated_PI3K_Delta_Syndrome wikiPageRevisionID "653446092".
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink Category:Immunodeficiency.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink Gain_of_function.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink Mutation.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink P110δ.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink PASLI_disease.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink PI3K.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink PIK3CD.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink Phosphoinositide_3-kinase.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLink Primary_immunodeficiency.
- Activated_PI3K_Delta_Syndrome wikiPageWikiLinkText "APDS".
- Activated_PI3K_Delta_Syndrome wikiPageWikiLinkText "Activated PI3K Delta Syndrome".
- Activated_PI3K_Delta_Syndrome hasPhotoCollection Activated_PI3K_Delta_Syndrome.
- Activated_PI3K_Delta_Syndrome subject Category:Immunodeficiency.
- Activated_PI3K_Delta_Syndrome hypernym Disease.
- Activated_PI3K_Delta_Syndrome type Disease.
- Activated_PI3K_Delta_Syndrome comment "Activated PI3K delta Syndrome (APDS, also known as PASLI disease) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene which encodes the p110δ catalytic subunit of PI3Kδ.Further reading:APDS Syndrome ([1])Genetics Home Reference entry: APDS ([2])Online Mendelian Inheritance in Man: APDS (OMIM #615513).Key references:Jou ST, Chien YH, Yang YH, Wang TC, Shyur SD, Chou CC, Chang ML, Lin DT, Lin KH, Chiang BL.".
- Activated_PI3K_Delta_Syndrome label "Activated PI3K Delta Syndrome".
- Activated_PI3K_Delta_Syndrome sameAs m.012zl8c2.
- Activated_PI3K_Delta_Syndrome wasDerivedFrom Activated_PI3K_Delta_Syndrome?oldid=653446092.
- Activated_PI3K_Delta_Syndrome isPrimaryTopicOf Activated_PI3K_Delta_Syndrome.