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From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
Fadlallah, Jehane; Chentout, Loic; Boisson, Bertrand; Pouliet, Aurore; Masson, Cecile; Morin, Florence; Durandy, Anne; Casanova, Jean-Laurent; Oksenhendler, Eric; Kracker, Sven.
Afiliação
  • Fadlallah J; Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, and Paris Diderot University, Paris, France. Electronic address: jehane.fadlallah@aphp.fr.
  • Chentout L; Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
  • Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY.
  • Pouliet A; Genomics Core Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
  • Masson C; Bioinformatics Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
  • Morin F; Immunology and Histocompatibility Laboratory, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Durandy A; Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
  • Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York, NY; Rockefeller University and Rockefeller University H
  • Oksenhendler E; Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, and Paris Diderot University, Paris, France.
  • Kracker S; Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
J Pediatr ; 223: 207-211.e1, 2020 08.
Article em En | MEDLINE | ID: mdl-32423680
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Citidina Desaminase / Disgamaglobulinemia / Previsões / Síndromes de Imunodeficiência / Mutação Limite: Female / Humans / Middle aged Idioma: En Revista: J Pediatr Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Citidina Desaminase / Disgamaglobulinemia / Previsões / Síndromes de Imunodeficiência / Mutação Limite: Female / Humans / Middle aged Idioma: En Revista: J Pediatr Ano de publicação: 2020 Tipo de documento: Article