Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma.


Journal

Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928

Informations de publication

Date de publication:
Nov 2019
Historique:
pubmed: 20 10 2018
medline: 15 4 2020
entrez: 19 10 2018
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 30334905
doi: 10.1097/MPH.0000000000001328
doi:

Substances chimiques

Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e521-e524

Auteurs

Frederic Baleydier (F)

Departments of Pediatrics.

Michela Schäppi (M)

Pediatric Gastroenterology, Private Hospital Les Grangettes, Geneva, Switzerland.

Anne-Laure Rougemont (AL)

Division of Clinical Pathology, University Hospitals Geneva.

Marc Ansari (M)

Departments of Pediatrics.

Geraldine Blanchard-Rohner (G)

Departments of Pediatrics.

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Classifications MeSH