From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years - 22/07/20
Doi : 10.1016/j.jpeds.2020.03.024
Jehane Fadlallah, MD, PhD 1, ⁎ 
, Loic Chentout, MS 2, Bertrand Boisson, PhD 3, 4, Aurore Pouliet, BS 5, Cecile Masson, MS 6, Florence Morin, PharmD 7, Anne Durandy, MD 2, Jean-Laurent Casanova, MD, PhD 3, 4, 8, 9, 10, Eric Oksenhendler, MD 1, ∗, Sven Kracker, PhD 2, ∗
, Loic Chentout, MS 2, Bertrand Boisson, PhD 3, 4, Aurore Pouliet, BS 5, Cecile Masson, MS 6, Florence Morin, PharmD 7, Anne Durandy, MD 2, Jean-Laurent Casanova, MD, PhD 3, 4, 8, 9, 10, Eric Oksenhendler, MD 1, ∗, Sven Kracker, PhD 2, ∗ 1 Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique–Hôpitaux de Paris, and Paris Diderot University, Paris, France
2 Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France
3 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Paris, France
4 St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY
5 Genomics Core Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France
6 Bioinformatics Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France
7 Immunology and Histocompatibility Laboratory, Saint-Louis Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France
8 Howard Hughes Medical Institute, New York, NY
9 Rockefeller University and Rockefeller University Hospital, New York, NY
10 Pediatric Immunology and Hematology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France
∗Reprint requests: Jehane Fadlallah, MD, PhD, Département d’Immunologie Clinique, Hôpital Saint-Louis, 1 avenue Claude Vellefaux, 75010, Paris, FranceDépartement d’Immunologie CliniqueHôpital Saint-Louis1 avenue Claude VellefauxParis75010France
Abstract |
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase. This report illustrates the progress made over 6 decades in the characterization of primary immunodeficiencies, from immunochemistry to whole-exome sequencing.
Le texte complet de cet article est disponible en PDF.Abbreviations : AD, AID, AR, CSR, HIGM, PID, SHM
Plan
| Funded by Inserm, the Agence Nationale de la Recherche, as part of the Investment for the Future Program (ANR-10-IAHU-01) and by ANR-19-CE17-0012-01 (ANR-AID), ANR-14-CE15-0009, the Ligue Contre le Cancer–Comité de Paris, the Fondation ARC pour la Recherche sur le Cancer, and the Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), the Rockefeller University, Paris Descartes University, and the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (P01AI061093). The authors declare no conflicts of interest. |
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Vol 223
P. 207 - août 2020 Retour au numéro
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