From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

Jehane Fadlallah; Loic Chentout; Bertrand Boisson; Aurore Pouliet; Cecile Masson; Florence Morin; Anne Durandy; Jean-Laurent Casanova; Eric Oksenhendler; Sven Kracker

doi:10.1016/j.jpeds.2020.03.024

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

J Pediatr. 2020 Aug:223:207-211.e1. doi: 10.1016/j.jpeds.2020.03.024. Epub 2020 May 15.

Authors

Affiliations

¹ Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, and Paris Diderot University, Paris, France. Electronic address: jehane.fadlallah@aphp.fr.
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; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY.
⁴ Genomics Core Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
⁵ Bioinformatics Facility, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
⁶ Immunology and Histocompatibility Laboratory, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
⁷ 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 Hospital, New York, NY; Pediatric Immunology and Hematology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
⁸ Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, and Paris Diderot University, Paris, France.

PMID: 32423680
DOI: 10.1016/j.jpeds.2020.03.024

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.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Cytidine Deaminase / genetics*
Cytidine Deaminase / metabolism
DNA Mutational Analysis
Dysgammaglobulinemia / complications
Dysgammaglobulinemia / genetics*
Dysgammaglobulinemia / metabolism
Female
Follow-Up Studies
Forecasting*
Humans
Immunologic Deficiency Syndromes / complications*
Middle Aged
Mutation*

Substances

Cytidine Deaminase

Grants and funding

P01 AI061093/AI/NIAID NIH HHS/United States