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British Journal of Haematology|September 5, 2024
Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapySophie de Tocqueville, Emmanuel Martin, Quentin Riller, et al.European Journal of Pediatrics|April 8, 2006
Kaposi's sarcoma in a child with Wiskott-Aldrich syndromeCapucine Picard, Fethi Mellouli, Renan Duprez, et al.Journal of Clinical Immunology|September 13, 2020
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature ReviewEmmanuel Lafont, Beatriz E Marciano, Nizar Mahlaoui, et al.Blood|December 17, 2011
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survivalNadine T Nehme, Jana Pachlopnik Schmid, Franck Debeurme, et al.Nucleic Acids Research|April 16, 2008
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transferGary P Wang, Alexandrine Garrigue, Angela Ciuffi, et al.The Journal of Experimental Medicine|May 9, 2007
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repairSophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, et al.Pediatrics|January 26, 2011
Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndromeIsabelle Pellier, Sophie Dupuis Girod, Didier Loisel, et al.European Journal of Immunology|June 24, 2009
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunityCapucine Picard, Stéphanie Dogniaux, Karine Chemin, et al.The Journal of Clinical Investigation|July 4, 2003
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombinationKohsuke Imai, Nadia Catalan, Alessandro Plebani, et al.European Journal of Medical Genetics|November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndromeAgnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.Pageof 44