Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome

Robin Kechiche^#^{1

2}, Clémence David^#¹, Joseph A Marsh³, Géraldine Labouret^#⁴, Marie-Louise Frémond^#^{5

6}

Affiliations

¹ Laboratory of Neurogenetics and Neuroinflammation Imagine Institute, INSERM UMR1163, Paris, France.
² Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
³ MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
⁴ Pediatric Pulmonology Department, University Hospital for Children, Toulouse, France.
⁵ Laboratory of Neurogenetics and Neuroinflammation Imagine Institute, INSERM UMR1163, Paris, France. marie-louise.fremond@aphp.fr.
⁶ Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France. marie-louise.fremond@aphp.fr.

^# Contributed equally.

Case Reports

Robin Kechiche et al. J Clin Immunol. 2024.

. 2024 Apr 27;44(5):112.

doi: 10.1007/s10875-024-01717-6.

Robin Kechiche^#^{1

2}, Clémence David^#¹, Joseph A Marsh³, Géraldine Labouret^#⁴, Marie-Louise Frémond^#^{5

6}

¹ Laboratory of Neurogenetics and Neuroinflammation Imagine Institute, INSERM UMR1163, Paris, France.
² Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
³ MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
⁴ Pediatric Pulmonology Department, University Hospital for Children, Toulouse, France.
⁵ Laboratory of Neurogenetics and Neuroinflammation Imagine Institute, INSERM UMR1163, Paris, France. marie-louise.fremond@aphp.fr.
⁶ Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France. marie-louise.fremond@aphp.fr.

^# Contributed equally.

No abstract available

References

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