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Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationQuentin Riller, Boris Sorin, Charline Courteille, et al.
The Journal of Allergy and Clinical Immunology|June 14, 2011
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotypeRomain Micol, Lilia Ben Slama, Felipe Suarez, et al.
Blood|July 18, 2015
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow TransplantationFrancesca Fioredda, Simona Iacobelli, Anja van Biezen, et al.
Blood|April 4, 2019
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genesJérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, et al.
The Journal of Allergy and Clinical Immunology|July 14, 2016
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) geneChantal Lagresle-Peyrou, Sonia Luce, Farid Ouchani, et al.
Blood|June 11, 2011
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative studyDaniele Moratto, Silvia Giliani, Carmem Bonfim, et al.
Nature Communications|June 22, 2023
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cellsLaure Delage, Francesco Carbone, Quentin Riller, et al.
The Journal of Clinical Investigation|June 12, 2018
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiencyDavid Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, et al.
JAMA|April 22, 2015
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndromeSalima Hacein-Bey Abina, H Bobby Gaspar, Johanna Blondeau, et al.
The Journal of Clinical Investigation|August 3, 2007
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapyAnnette Deichmann, Salima Hacein-Bey-Abina, Manfred Schmidt, et al.
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