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

ABSTRACT: 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-?B2 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.

SUBMITTER: Parsons K

PROVIDER: S-EPMC6433840 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Severe Facial Herpes Vegetans and Viremia in <i>NFKB2</i>-Deficient Common Variable Immunodeficiency.

Parsons Karyn K Cipriano Sarah D SD Rosen Lindsey B LB Browne Sarah K SK Walter Jolan E JE Stone Bryan L BL Keeshin Susana S Chen Karin K

Frontiers in pediatrics 20190319

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 <i>NFKB2</i> who developed a severe herpes vegetans cutaneous infection as well as concurr ...[more]

PMID: 30941333

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