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Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation

BACKGROUND: Common variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmune features, and rare atypical manifestations th...

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Autores principales: Spangenberg, María Noel, Grille, Sofía, Simoes, Camila, Brandes, Mariana, Garcia-Luna, Joaquín, Catalán, Ana Inés, Ranero, Sabrina, Boada, Matilde, Brugnini, Andreína, Trias, Natalia, Lens, Daniela, Raggio, Víctor, Spangenberg, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534963/
https://www.ncbi.nlm.nih.gov/pubmed/37781189
http://dx.doi.org/10.3389/fonc.2023.1248964
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author Spangenberg, María Noel
Grille, Sofía
Simoes, Camila
Brandes, Mariana
Garcia-Luna, Joaquín
Catalán, Ana Inés
Ranero, Sabrina
Boada, Matilde
Brugnini, Andreína
Trias, Natalia
Lens, Daniela
Raggio, Víctor
Spangenberg, Lucía
author_facet Spangenberg, María Noel
Grille, Sofía
Simoes, Camila
Brandes, Mariana
Garcia-Luna, Joaquín
Catalán, Ana Inés
Ranero, Sabrina
Boada, Matilde
Brugnini, Andreína
Trias, Natalia
Lens, Daniela
Raggio, Víctor
Spangenberg, Lucía
author_sort Spangenberg, María Noel
collection PubMed
description BACKGROUND: Common variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmune features, and rare atypical manifestations that can complicate diagnosis and management. Although most cases are sporadic, approximately 10% of the patients may have a family history of immunodeficiency. Genetic causes involving genes related to B-cell development and survival have been identified in only a small percentage of cases. CASE PRESENTATION: We present the case of a family with two brothers who presented with mycosis fungoides as an exclusive symptom of a common variable immunodeficiency disorder (CVID). Whole-exome sequencing of the index patient revealed a pathogenic variant of the NFKB2 gene. Based on this diagnosis and re-evaluation of other family members, the father and brother were diagnosed with this rare immune and preneoplastic syndrome. All CVID-affected family members presented with mycosis fungoides as their only symptom, which is, to the best of our knowledge, the first case to be reported. CONCLUSION: This case highlights the importance of high-throughput sequencing techniques for the proper diagnosis and treatment of hereditary hematological disorders.
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spelling pubmed-105349632023-09-29 Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation Spangenberg, María Noel Grille, Sofía Simoes, Camila Brandes, Mariana Garcia-Luna, Joaquín Catalán, Ana Inés Ranero, Sabrina Boada, Matilde Brugnini, Andreína Trias, Natalia Lens, Daniela Raggio, Víctor Spangenberg, Lucía Front Oncol Oncology BACKGROUND: Common variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmune features, and rare atypical manifestations that can complicate diagnosis and management. Although most cases are sporadic, approximately 10% of the patients may have a family history of immunodeficiency. Genetic causes involving genes related to B-cell development and survival have been identified in only a small percentage of cases. CASE PRESENTATION: We present the case of a family with two brothers who presented with mycosis fungoides as an exclusive symptom of a common variable immunodeficiency disorder (CVID). Whole-exome sequencing of the index patient revealed a pathogenic variant of the NFKB2 gene. Based on this diagnosis and re-evaluation of other family members, the father and brother were diagnosed with this rare immune and preneoplastic syndrome. All CVID-affected family members presented with mycosis fungoides as their only symptom, which is, to the best of our knowledge, the first case to be reported. CONCLUSION: This case highlights the importance of high-throughput sequencing techniques for the proper diagnosis and treatment of hereditary hematological disorders. Frontiers Media S.A. 2023-09-13 /pmc/articles/PMC10534963/ /pubmed/37781189 http://dx.doi.org/10.3389/fonc.2023.1248964 Text en Copyright © 2023 Spangenberg, Grille, Simoes, Brandes, Garcia-Luna, Catalán, Ranero, Boada, Brugnini, Trias, Lens, Raggio and Spangenberg 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 Oncology
Spangenberg, María Noel
Grille, Sofía
Simoes, Camila
Brandes, Mariana
Garcia-Luna, Joaquín
Catalán, Ana Inés
Ranero, Sabrina
Boada, Matilde
Brugnini, Andreína
Trias, Natalia
Lens, Daniela
Raggio, Víctor
Spangenberg, Lucía
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title_full Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title_fullStr Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title_full_unstemmed Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title_short Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
title_sort case report: mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a nfkb2 gene mutation
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534963/
https://www.ncbi.nlm.nih.gov/pubmed/37781189
http://dx.doi.org/10.3389/fonc.2023.1248964
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