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Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy

Nuclear factor κappa-B (NFκB) is a family of transcription factors involved in regulating inflammation and immunity. Mutations in the NFκB1 pathway are associated with primary immune defects and underlie the most common monogenic etiology of common variable immunodeficiency (CVID). However, little i...

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Autores principales: Nguyen, Diem-Tran I., Grimes, Amanda, Mahoney, Donald, Faro, Sebastian, Shearer, William T., Miller, Aaron L., Rider, Nicholas L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292645/
https://www.ncbi.nlm.nih.gov/pubmed/34307247
http://dx.doi.org/10.3389/fped.2021.648022
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author Nguyen, Diem-Tran I.
Grimes, Amanda
Mahoney, Donald
Faro, Sebastian
Shearer, William T.
Miller, Aaron L.
Rider, Nicholas L.
author_facet Nguyen, Diem-Tran I.
Grimes, Amanda
Mahoney, Donald
Faro, Sebastian
Shearer, William T.
Miller, Aaron L.
Rider, Nicholas L.
author_sort Nguyen, Diem-Tran I.
collection PubMed
description Nuclear factor κappa-B (NFκB) is a family of transcription factors involved in regulating inflammation and immunity. Mutations in the NFκB1 pathway are associated with primary immune defects and underlie the most common monogenic etiology of common variable immunodeficiency (CVID). However, little is known about how NFκB1 defects or primary immunodeficiency (PID) complicate pregnancy. We present a previously healthy 34-year-old patient who suffered from poor wound healing and sterile sepsis during the post-partum period of each of her three pregnancies. She was otherwise asymptomatic, but her daughter developed Evans Syndrome (ES) with hypogammaglobulinemia prompting expanded genetic testing which revealed a novel monoallelic variant in NFκB1. This case highlights that pregnancy-related complications of PID can be difficult to recognize and may portend adverse patient outcomes. For these reasons, guidance regarding diagnosis and management of women of childbearing age with PID is warranted.
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spelling pubmed-82926452021-07-22 Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy Nguyen, Diem-Tran I. Grimes, Amanda Mahoney, Donald Faro, Sebastian Shearer, William T. Miller, Aaron L. Rider, Nicholas L. Front Pediatr Pediatrics Nuclear factor κappa-B (NFκB) is a family of transcription factors involved in regulating inflammation and immunity. Mutations in the NFκB1 pathway are associated with primary immune defects and underlie the most common monogenic etiology of common variable immunodeficiency (CVID). However, little is known about how NFκB1 defects or primary immunodeficiency (PID) complicate pregnancy. We present a previously healthy 34-year-old patient who suffered from poor wound healing and sterile sepsis during the post-partum period of each of her three pregnancies. She was otherwise asymptomatic, but her daughter developed Evans Syndrome (ES) with hypogammaglobulinemia prompting expanded genetic testing which revealed a novel monoallelic variant in NFκB1. This case highlights that pregnancy-related complications of PID can be difficult to recognize and may portend adverse patient outcomes. For these reasons, guidance regarding diagnosis and management of women of childbearing age with PID is warranted. Frontiers Media S.A. 2021-07-07 /pmc/articles/PMC8292645/ /pubmed/34307247 http://dx.doi.org/10.3389/fped.2021.648022 Text en Copyright © 2021 Nguyen, Grimes, Mahoney, Faro, Shearer, Miller and Rider. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Nguyen, Diem-Tran I.
Grimes, Amanda
Mahoney, Donald
Faro, Sebastian
Shearer, William T.
Miller, Aaron L.
Rider, Nicholas L.
Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title_full Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title_fullStr Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title_full_unstemmed Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title_short Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy
title_sort case report: post-partum complications of nfκb1 deficiency underscore a need to better understand primary immunodeficiency management during pregnancy
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292645/
https://www.ncbi.nlm.nih.gov/pubmed/34307247
http://dx.doi.org/10.3389/fped.2021.648022
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