Evidence map›Paper›PMID 41845460›Full record

ArticleAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2026

APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway.

Devyani Bakshi, Andrew Wong-Pack, Stacey Marjerrison, Rae Brager, Manish J Butte, Timothy J Thauland, Jenny Garkaby

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Article in Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Devyani BakshiDivision of Clinical Immunology, Allergy and Dermatology, Department of Pediatrics, McMaster University, McMaster Children's Hospital, Hamilton, ON, Canada.
Andrew Wong-PackDivision of Clinical Immunology, Allergy and Dermatology, Department of Pediatrics, McMaster University, McMaster Children's Hospital, Hamilton, ON, Canada.
Stacey MarjerrisonDivision of Pediatric Hematology/Oncology, Department of Pediatrics, McMaster University, McMaster Children's Hospital, Hamilton, ON, Canada.
Rae BragerDivision of Clinical Immunology, Allergy and Dermatology, Department of Pediatrics, McMaster University, McMaster Children's Hospital, Hamilton, ON, Canada.
Manish J ButteDepartment of Pediatrics, Division of Immunology and Allergy, University of California Los Angeles, Los Angeles, CA, USA.
Timothy J ThaulandDepartment of Pediatrics, Division of Immunology and Allergy, University of California Los Angeles, Los Angeles, CA, USA.
Jenny GarkabyDivision of Clinical Immunology, Allergy and Dermatology, Department of Pediatrics, McMaster University, McMaster Children's Hospital, Hamilton, ON, Canada. garkabyj@mcmaster.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundActivated phosphoinositide 3-kinase δ syndrome (APDS) is an inborn error of immunity in the PIK3CD gene caused by an increase in phosphoinositide 3-kinase δ (PI3Kδ) activity. APDS is characterized by immune dysregulation such as senescent T cells, lymphoproliferation, and hypogammaglobulinemia. Patients present with lymphoid hyperplasia, recurrent sinopulmonary infections, recurrent viremias, and lymphomas. CASE PRESENTATION: We present a case report of a patient with APDS due to a novel variant in the PIK3CD gene. Our patient was identified at 3 years of age due to persistent EBV viremia and Hodgkin lymphoma. Immune evaluation demonstrated upregulation of T follicular helper cells and CD10 + B cells were consistent with the lymphocytic phenotype present in patients with APDS. However, there was no upregulation of the T cell mTOR pathway by functional testing. The patient was found to carry a novel variant, (c.58G > A p.(Val20lle)), in the PIK3CD gene.

conclusionsWe describe a 3-year-old patient with a novel variant in the PIK3CD gene (c.58G > A p.(Val20lle)) presenting with EBV viremia, Hodgkin lymphoma, upregulation T follicular helper cells and CD10 + B cells consistent with a phenotype of APDS in a 3-year-old boy. This case broadens our understanding of the genetic and phenotypic spectrum of PIK3CD gene mutations in APDS.

Indexed as

APDSEBV viremiaHodgkin lymphomaPIK3CD

Identifiers

PMID41845460
PMCPMC13107807

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