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Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS)

A Primary Immunodeficiency Mimicking Lymphoma

Baleydier, Frederic MD, PhD*; Ranza, Emmanuelle MD; Schäppi, Michela MD; Rougemont, Anne-Laure MD§; Merlini, Laura MD; Ansari, Marc MD, PD*; Blanchard-Rohner, Geraldine MD, PhD*

Journal of Pediatric Hematology/Oncology: October 16, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001328
Clinical and Laboratory Observations: PDF Only

Malignant or nonmalignant lymphoproliferative disorders together with repeated ear, nose, and throat infections should strongly motivate immunologic investigations. Indeed, we report a 7-year-old patient with a history of persistent abdominal symptoms along with recurrent ear, nose, and throat infections, who presented with intra-abdominal masses highly suggestive of a diagnostic of lymphoma, and who was diagnosed with activated-PI3K-delta syndrome, a recently described primary immunodeficiency prone to lymphoproliferation.

Departments of *Pediatrics



§Division of Clinical Pathology, University Hospitals Geneva

Pediatric Gastroenterology, Private Hospital Les Grangettes, Geneva, Switzerland

E.R. and M.S. contributed equally.

The authors declare no conflict of interest.

Reprints: Frederic Baleydier, MD, PhD, Department of pediatrics, University Hospitals Geneva, rue Willy Donze, 1205 Geneve, Switzerland (e-mail:

Received March 18, 2018

Accepted August 31, 2018

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