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Lancet (London, England)|February 25, 2003
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99Corinne Antoine, Susanna Müller, Andrew Cant, et al.
Frontiers in Immunology|November 30, 2020
Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired ImmunodeficienciesPaul Bastard, Aurélien Galerne, Alain Lefevre-Utile, et al.
The Journal of Allergy and Clinical Immunology|April 3, 2012
Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn diseaseCarl E I Janssen, Carlos D Rose, Gert De Hertogh, et al.
The Journal of Allergy and Clinical Immunology|August 4, 2014
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiencyStuart E Turvey, Anne Durandy, Alain Fischer, et al.
Blood|September 13, 2011
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patientsMonia Ouederni, Quentin B Vincent, Pierre Frange, et al.
Human Molecular Genetics|April 18, 2013
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instabilityTangui Le Guen, Laurent Jullien, Fabien Touzot, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|October 8, 2018
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell TransplantationGerald V Raymond, Patrick Aubourg, Asif Paker, et al.
The Journal of Experimental Medicine|March 14, 2023
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiencyRomane Thouenon, Loïc Chentout, Nidia Moreno-Corona, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasiaChristie-Ann McCarl, Capucine Picard, Sara Khalil, et al.
Cell Discovery|November 21, 2018
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structureMarie-Therese El-Daher, Nicolas Cagnard, Marine Gil, et al.
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