D
Dufourcq-Lagelouse R
Researcher at Necker-Enfants Malades Hospital
Publications - 7
Citations - 3327
Dufourcq-Lagelouse R is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Hemophagocytic lymphohistiocytosis & Familial Hemophagocytic Lymphohistiocytosis. The author has an hindex of 6, co-authored 7 publications receiving 3192 citations. Previous affiliations of Dufourcq-Lagelouse R include French Institute of Health and Medical Research.
Papers
More filters
Journal ArticleDOI
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Patrick Revy,Taro Muto,Yves Levy,Frederic Geissmann,Alessandro Plebani,Ozden Sanal,Nadia Catalan,Monique Forveille,Dufourcq-Lagelouse R,Andrew R. Gennery,Ilhan Tezcan,Fügen Ersoy,Hülya Kayserili,Alberto G. Ugazio,Nicole Brousse,Masamichi Muramatsu,Luigi D. Notarangelo,Kazuo Kinoshita,Tasuku Honjo,Alain Fischer,Anne Durandy +20 more
TL;DR: The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.
Journal ArticleDOI
Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Susan E. Stepp,Dufourcq-Lagelouse R,Françoise Le Deist,Françoise Le Deist,Sadhna Bhawan,Stéphanie Certain,Porunelloor A. Mathew,Jan-Inge Henter,Michael J. Bennett,Alain Fischer,Alain Fischer,Geneviève de Saint Basile,Vinay Kumar +12 more
TL;DR: In this paper, the coding regions of the perforin gene of eight unrelated 10q21-22-linked FHL patients revealed homozygous nonsense mutations in four patients and missense mutations in the other four patients.
Journal ArticleDOI
Griscelli Disease Maps to Chromosome 15q21 and Is Associated With Mutations in the myosin-Va Gene
Pastural E,Franck J. Barrat,Dufourcq-Lagelouse R,Stéphanie Certain,Ozden Sanal,Nada Jabado,Reinhard Seger,Claude Griscelli,Alain Fischer,Alain Fischer,de Saint Basile G +10 more
TL;DR: It is reported that the Griscelli disease locus co-localizes on chromosome 15q21 with the myosin-Va gene, MYO5a, and that mutations of this gene occur in two patients with the disease.
Journal ArticleDOI
Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity
Dufourcq-Lagelouse R,Nada Jabado,Nada Jabado,Françoise Le Deist,Françoise Le Deist,Jean-Louis Stephan,G Souillet,Marrie C.A. Bruin,Etienne Vilmer,Marion Schneider,Gritta Janka,Alain Fischer,Alain Fischer,Geneviève de Saint Basile +13 more
TL;DR: Heterogeneity analysis and haplotype inspection of the remaining families confirmed that in seven families FHL was not linked to the 10q21-22 region, thus providing evidence for genetic heterogeneity of this condition.
Journal ArticleDOI
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
Dufourcq-Lagelouse R,Nathalie Lambert,Duval M,Géraldine Viot,Vilmer E,Alain Fischer,Marguerite Prieur,de Saint Basile G +7 more
TL;DR: A unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype, was found to be a carrier of the mutation.