Blanca Urban and Laura Batlle-Masó have contributed equally to this work.
Translational Immunology Research Group, Vall d’Hebron Research Institute (VHIR), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
Blanca Urban, Janire Perurena-Prieto, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Laith Moushib, Romina Dieli-Crimi & Roger Colobran
Immunology Division, Hospital Universitari Vall d’Hebron (HUVH), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
Blanca Urban, Janire Perurena-Prieto, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Romina Dieli-Crimi & Roger Colobran
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain
Blanca Urban, Laura Batlle-Masó, Janire Perurena-Prieto, Marina Garcia-Prat, Alba Parra-Martínez, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Laith Moushib, Jacques G. Rivière, Pere Soler-Palacin, Romina Dieli-Crimi & Roger Colobran
Infection and Immunity in Pediatric Patient, Vall d’Hebron Research Institute (VHIR), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
Laura Batlle-Masó, Marina Garcia-Prat, Alba Parra-Martínez, Jacques G. Rivière & Pere Soler-Palacin
Pediatric Infectious Diseases and Immunodeficiencies Unit, Children’s Hospital, Hospital Universitari Vall d’Hebron (HUVH), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
Laura Batlle-Masó, Marina Garcia-Prat, Alba Parra-Martínez, Jacques G. Rivière & Pere Soler-Palacin
Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain
Laura Batlle-Masó
Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain
Janire Perurena-Prieto, Mónica Martinez-Gallo, Laith Moushib & Roger Colobran
Department of Clinical and Molecular Genetics, Hospital Universitari Vall d’Hebron (HUVH), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
María Antolín & Roger Colobran
Medicine Genetics Research Group, Vall d’Hebron Research Institute (VHIR), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain
María Antolín
Immunology Department, Laboratori Clinic ICS Camp de Tarragona, Hospital Joan XXIII, Tarragona, Catalonia, Spain
Clara Franco-Jarava
BU, RDC, JR and PSP provided patient care, and collected the clinical data. AAC performed sample collection, nucleic acid extraction, and Sanger sequencing. JPP and MMG were responsible for the flow cytometry studies. CFJ, MGP, APM and JPP performed laboratory analyses and molecular studies. MA, LBM, RC and LM were responsible for generating and analyzing the NGS data (gene panels and WES). BU, LBM, CFJ and RC interpreted the overall results and wrote the manuscript. CFJ and RC designed and supervised the project, provided resources, and edited the manuscript. All co-authors reviewed, commented on, and approved the final version of the manuscript.
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