Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome
J Clin Immunol
.
2024 Apr 27;44(5):112.
doi: 10.1007/s10875-024-01717-6.
Authors
Robin Kechiche
#
1
2
,
Clémence David
#
1
,
Joseph A Marsh
3
,
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.
[email protected]
.
6
Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
[email protected]
.
#
Contributed equally.
PMID:
38676816
DOI:
10.1007/s10875-024-01717-6
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
Case Reports
MeSH terms
Female
Humans
Immunologic Deficiency Syndromes* / diagnosis
Immunologic Deficiency Syndromes* / genetics
Male
Mutation / genetics
Grants and funding
FDM202106013329/Fondation pour la Recherche Médicale