Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

  • Itzel López-Hernández Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico
  • Caroline Deswarte Paris Descartes University, Imagine Institute, Paris, France AND Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France
  • Miguel Ángel Alcantara-Ortigoza Department of Genetics, Laboratory of Molecular Biology, National Institute of Pediatrics, Mexico City, Mexico
  • María del Mar Saez-de-Ocariz Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico
  • Marco Antonio Yamazaki-Nakashimada Department of Clinical Immunology, National Institute of Pediatrics, Mexico City, Mexico
  • Sara Elva Espinosa-Padilla Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico
  • Jacinta Bustamante Paris Descartes University, Imagine Institute, Paris, France AND St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
  • Lizbeth Blancas-Galicia Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico https://orcid.org/0000-0002-3861-8864
Keywords: Autoimmunity, X-linked chronic granulomatous disease carrier, Discoid lupus, Skewed lyonization, X-inactivation, X-linked chronic granulomatous disease

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to an extremely skewed X-chromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38-year-old Mexican female with juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical features were similar to those in patients with classic X-linked-CDG.

References

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Published
2019-08-17
How to Cite
1.
López-Hernández I, Deswarte C, Alcantara-Ortigoza M Ángel, Saez-de-Ocariz M del M, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Bustamante J, Blancas-Galicia L. Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease. Iran J Allergy Asthma Immunol. 18(4):447-451.
Section
Case Report(s)