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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-10534963 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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