Article ; Online: Infections in activated PI3K delta syndrome (APDS).
2021 Volume 72, Page(s) 146–157
Abstract: Activated PI3K-delta Syndrome (APDS), also called PI3K-delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is an autosomal dominant disorder caused by inherited or de novo gain-of-function mutations in one ... ...
| Abstract | Activated PI3K-delta Syndrome (APDS), also called PI3K-delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is an autosomal dominant disorder caused by inherited or de novo gain-of-function mutations in one of two genes encoding subunits of the phosphoinositide-3-kinase delta (PI3Kδ) complex. This largely leukocyte-restricted protein complex regulates cell growth, activation, proliferation, and survival. Patients who harbor these mutations have early onset immunodeficiency with recurrent infections, lymphadenopathy, and autoimmunity. The most common infection susceptibilities are sinopulmonary (encapsulated bacteria) and herpesviruses. Multiple defects in both innate and adaptive immune function are responsible for this phenotype. Apart from anti-microbial prophylaxis and immunoglobulin replacement, patients are treated with a variety of immunomodulatory agents and some have needed hematopoietic stem cell transplants. Here, we highlight the spectrum of infections, immune defects, and therapy options in this inborn error of immunity. |
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| MeSH term(s) | Alleles ; Autoimmunity ; Class I Phosphatidylinositol 3-Kinases/genetics ; Disease Management ; Disease Susceptibility ; Gain of Function Mutation ; Genetic Predisposition to Disease ; Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans ; Infections/diagnosis ; Infections/etiology ; Infections/therapy ; Organ Specificity/genetics ; Organ Specificity/immunology ; Primary Immunodeficiency Diseases/complications ; Primary Immunodeficiency Diseases/genetics ; Signal Transduction |
| Chemical Substances | Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) |
| Language | English |
| Publishing date | 2021-05-27 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review |
| ZDB-ID | 1035767-1 |
| ISSN | 1879-0372 ; 0952-7915 |
| ISSN (online) | 1879-0372 |
| ISSN | 0952-7915 |
| DOI | 10.1016/j.coi.2021.04.010 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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