{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T10:24:24Z","timestamp":1793874264875,"version":"4.6.1"},"reference-count":66,"publisher":"American Society of Hematology","issue":"9","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,2,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Activated phosphatidylinositol 3-kinase-\u03b4 (PI3K-\u03b4) syndrome (APDS) is a rare primary combined immunodeficiency caused by either dominant gain-of-function mutations in the PIK3CD gene encoding the catalytic subunit p110\u03b4 of PI3K-\u03b4 (referred to as type 1 APDS) or dominant loss-of-function mutations in the PIK3R1 gene encoding the p85\u03b1, p55\u03b1, and p50\u03b1 regulatory subunits (type 2 APDS). In types 1 and 2 APDS, the PI3K-\u03b4 hyperactivity resulting from the gene mutations leads to similar clinical presentations, characterized by increased susceptibility to bacterial and viral infections and (to a lesser extent) autoimmune manifestations. A hallmark of this disease is lymphoproliferation, which may even be life threatening and require repeated surgical treatment. A major complication of APDS is malignancy (especially B-cell lymphomas), which greatly worsens the prognosis. Here, we review the different neoplastic conditions observed in patients with APDS and discuss the uncontrolled PI3K-\u03b4 activity in B and T cells that leads to malignant transformation.<\/jats:p>","DOI":"10.1182\/blood.2019002072","type":"journal-article","created":{"date-parts":[[2020,1,15]],"date-time":"2020-01-15T20:09:42Z","timestamp":1579118982000},"page":"638-643","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":46,"title":["Increased activation of PI3 kinase-\u03b4 predisposes to B-cell lymphoma"],"prefix":"10.1182","volume":"135","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7706-8466","authenticated-orcid":false,"given":"Anne","family":"Durandy","sequence":"first","affiliation":[{"name":"Laboratory of Human Lymphohematopoiesis, INSERM UMR1163, Imagine Institute, Paris, France; and Facult\u00e9 de M\u00e9decine Paris Descartes, Sorbonne Paris Cit\u00e9 Universit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4543-8236","authenticated-orcid":false,"given":"Sven","family":"Kracker","sequence":"first","affiliation":[{"name":"Laboratory of Human Lymphohematopoiesis, INSERM UMR1163, Imagine Institute, Paris, France; and Facult\u00e9 de M\u00e9decine Paris Descartes, Sorbonne Paris Cit\u00e9 Universit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020022706594825800_B1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1146\/annurev-immunol-032712-095946","article-title":"Signaling by the phosphoinositide 3-kinase family in immune cells","volume":"31","author":"Okkenhaug","year":"2013","journal-title":"Annu Rev Immunol"},{"key":"2020022706594825800_B2","volume-title":"Identification of a phosphoinositide 3-kinase (PI-3K) p110\u03b4 (PIK3CD) deficient individual. 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