Open access journal of the Ferrata-Storti Foundation, a non-profit organization
Case Reports

Atypical presentation of RAG1-associated SCID: diagnostic challenges beyond infections and lymphocyte count

Immunology and allergy Department, CHU de Québec, Québec
Department of pediatrics, Faculty of Medicine, Laval University, Québec, Canada; Division of Pediatric Hemato-oncology, CHU de Québec, Québec
Department of pediatrics, Faculty of Medicine, Laval University, Québec, Canada; Division of Pediatric Hemato-oncology, CHU de Québec, Québec, Canada; Division of Pediatric Infectious Diseases, CHU de Québec, Québec
Department of Microbiology, Infectiology and Immunology, Université de Montréal, Montréal, Québec
Division of Pediatric Hemato-oncology, CHU Ste-Justine, Montréal
Department of pediatrics, Faculty of Medicine, Laval University, Québec, Canada; Division of Pediatric Hemato-oncology, CHU de Québec, Québec, Canada; Division of Pediatric Infectious Diseases, CHU de Québec, Québec, Canada; Department of Microbiology, Infectiology and Immunology, Université de Montréal, Montréal, Québec, Canada; Division of Pediatric Hemato-oncology, CHU Ste-Justine, Montréal, Canada; Division of Pediatric Intensive Care Medicine, CHU de Québec, Québec
Immunology and allergy Department, CHU de Québec, Québec, Canada; Department of pediatrics, Faculty of Medicine, Laval University, Québec, Canada; Division of Pediatric Hemato-oncology, CHU de Québec, Québec, Canada; Division of Pediatric Infectious Diseases, CHU de Québec, Québec, Canada; Department of Microbiology, Infectiology and Immunology, Université de Montréal, Montréal, Québec, Canada; Division of Pediatric Hemato-oncology, CHU Ste-Justine, Montréal, Canada; Division of Pediatric Intensive Care Medicine, CHU de Québec, Québec, Canada; Division of Specialized Medicine of the Faculty of Medicine, Laval University, Québec, Canada; CHU de Quebec Research center, Laval University, Québec
Haematologica Early view May 28, 2026 https://doi.org/10.3324/haematol.2025.288435

Abstract

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Early view : Case Reports
 
DOI
https://doi.org/10.3324/haematol.2025.288435
 
Published
2026-05-28
Published By
Ferrata Storti Foundation, Pavia, Italy
Print ISSN
0390-6078
Online ISSN
1592-8721
 
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Copyright (c) 2026 Ferrata Storti Foundation
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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ISSN 0390-6078 print | ISSN 1592-8721 online