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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
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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

Genetics

Radiology

§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: frederic.baleydier@hcuge.ch).

Received March 18, 2018

Accepted August 31, 2018

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