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Journal of Clinical Immunology|June 21, 2020
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case SeriesFaustine Lhomme, Thierry Peyrard, Jérôme Babinet, et al.
Blood|November 25, 2003
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCUBénédicte Neven, Isabelle Callebaut, Anne-Marie Prieur, et al.
Clinical Immunology (Orlando, Fla.)|February 14, 2004
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyPierre Quartier, Jacinta Bustamante, Ozden Sanal, et al.
Blood|June 10, 2010
Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomalyAles Janda, Petr Sedlacek, Manfred Hönig, et al.
Nature Communications|March 4, 2024
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in miceClaire Soudais, Romane Schaus, Camille Bachelet, et al.
Blood|October 24, 2002
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000Reinhard A Seger, Tayfun Gungor, Bernd H Belohradsky, et al.
Lancet (London, England)|June 23, 2004
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiencyCaroline Laffort, Françoise Le Deist, Michel Favre, et al.
Nature Communications|September 5, 2014
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defectMarkus Bender, Simon Stritt, Paquita Nurden, et al.
Blood Advances|January 4, 2018
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutationsFabien Touzot, Laetitia Kermasson, Laurent Jullien, et al.
Blood|May 31, 2011
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO proteinMarjorie Hubeau, Flora Ngadjeua, Anne Puel, et al.
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