Abstract
Activated phosphoinositide 3-kinase δ syndrome type 1 (APDS1) is the disease with autosomal dominant inheritance and incomplete penetrance
A variety of clinical presentations with varied severity develop in different patients, even if there are identical mutations
APDS is characterized by recurrent respiratory tract infections, herpes virus infections, lymphadenopathy and splenomegaly, as well as additional risk for lymphoid malignancies and autoimmunity
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References
Gold MR, Scheid MP, Santos L, Dang-Lawson M, Roth RA, Matsuuchi L, Duronio V, Krebs DL. The B cell antigen receptor activates the Akt (protein kinase B)/glycogen synthase kinase-3 signaling pathway via phosphatidylinositol 3-kinase. J Immunol. 1999;163(4):1894–905.
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 p110delta result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88–97.
Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013;13(7):519–33.
Schuster V, Kreth HW. X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein. Immunol Rev. 2000;178:21–8.
Bleesing JJ, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival. Pediatr Clin N Am. 2000;47(6):1291–310.
Gilmour KC, Gaspar HB. Pathogenesis and diagnosis of X-linked lymphoproliferative disease. Expert Rev Mol Diagn. 2003;3(5):549–61.
Seve P, Broussolle C, Pavic M. [Primary immunodeficiencies presenting with autoimmune cytopenias in adults]. Rev Med Interne. 2013;34(3):148–53.
Sarbassov DD, Guertin DA, Ali SM, Sabatini DM. Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex. Science (New York, NY). 2005;307(5712):1098–101.
Newton RH, Turka LA. Regulation of T cell homeostasis and responses by pten. Front Immunol. 2012;3:151.
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Pashchenko, O., Kondratenko, I., Vakhlyrskaya, S. (2019). Siblings Presenting with Mild and Severe Lymphoproliferation. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_21
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DOI: https://doi.org/10.1007/978-3-030-21262-9_21
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