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Título:

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

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Spangenberg, María Noel
Grille, Sofía
Simoes, Camila
Brandes, Mariana
García-Luna, Joaquín
Catalán, Ana Inés
Ranero, Sabrina
Boada, Matilde
Trías, Natalia
Lens, Daniela
Raggio, Víctor
Spangenberg, Lucía

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ENFERMEDADES DE INMUNODEFICIENCIA PRIMARIA
FORMACIÓN DE ANTICUERPOS
INFECCIONES BACTERIANAS
DIAGNÓSTICO
TERAPÉUTICA
LINFOCITOS B
ENFERMEDADES GENÉTICAS CONGÉNITAS
ENFERMEDADES HEMATOLÓGICAS
GENÉTICA

Año de publicación:

2023

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Resumen:

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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Frontiers Media

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Frontiers in Oncology. 2023;13

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Citación:

Spangenberg M, Grille S, Simoes C y otros. Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation. Frontiers in Oncology [en línea]. 2023;13. 8 p.

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Licencia Creative Commons Atribución (CC - By 4.0)

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