Severe Facial Herpes Vegetans and Viremia in NFKB2 -Deficient Common Variable Immunodeficiency

Frontiers in Pediatrics

article

Karyn Parsons¹  Sarah D. Cipriano²  Lindsey B. Rosen³  Sarah K. Browne⁴  Jolan E. Walter⁵  Bryan L. Stone⁸  Susana Keeshin⁹  Karin Chen^1,10 

[1] Department of Pediatrics, University of Utah School of Medicine, United States;Department of Dermatology, University of Utah School of Medicine, United States;Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, United States;Center for Biologics Evaluation and Research, Food and Drug Administration, United States;Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins All Children's Hospital, United States;Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, United States;Division of Allergy and Immunology, Department of Pediatrics, Massachusetts General Hospital for Children, United States;Division of Pediatric Inpatient Medicine, Department of Pediatrics, University of Utah School of Medicine, United States;Division of Pediatric Infectious Disease, Department of Pediatrics, University of Utah School of Medicine, United States;Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, United States

关键词: NF-kappaB2;    common variable immune deficiency (CVID);    herpes vegetans;    Herpes simplex virus (HSV);    primary immunodeficiency (PIDD);    anticytokine antibodies;    hypogammaglobulinemia;    pediatric primary immune deficiency;   

DOI  :  10.3389/fped.2019.00061

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

With the accessibility of next-generation sequencing modalities, an increasing number of primary immunodeficiency disorders (PIDDs) such as common variable immunodeficiency (CVID) have gained improved understanding of molecular pathogenesis and disease phenotype with the identification of a genetic etiology. We report a patient with early-onset CVID due to an autosomal dominant loss-of-function mutation in NFKB2 who developed a severe herpes vegetans cutaneous infection as well as concurrent herpes simplex virus viremia. The case highlights features of CVID, unique aspects of NF-κB2 deficiency including susceptibility to herpesvirus infections, the detection of neutralizing anticytokine antibodies, and the complexity of medical management of patients with a PIDD that can be aided by a known genetic diagnosis.

【 授权许可】

CC BY