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
Cátedra de Hematología, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Departamento Básico de Medicina, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Front Oncol. 2023 Sep 13;13:1248964. doi: 10.3389/fonc.2023.1248964. eCollection 2023.
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.
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 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.
This case highlights the importance of high-throughput sequencing techniques for the proper diagnosis and treatment of hereditary hematological disorders.
常见变异型免疫缺陷病（CVIDs）是一类以原发性抗体产生缺陷为特征的原发性免疫缺陷病，通常表现为反复细菌感染、抗体水平降低、自身免疫特征以及可能使诊断和管理复杂化的罕见非典型表现。虽然大多数病例为散发性，但约10%的患者可能有免疫缺陷家族史。仅在一小部分病例中发现了涉及与B细胞发育和存活相关基因的遗传原因。
我们报告了一个有两兄弟的家庭的病例，他们以蕈样肉芽肿作为常见变异型免疫缺陷病（CVID）的唯一症状。先证者的全外显子测序揭示了该基因的一个致病变异。基于这一诊断并对其他家庭成员进行重新评估，父亲和兄弟被诊断患有这种罕见的免疫和肿瘤前期综合征。所有受CVID影响的家庭成员均以蕈样肉芽肿作为唯一症状，据我们所知，这是首例报告病例。
本病例强调了高通量测序技术在遗传性血液系统疾病正确诊断和治疗中的重要性。
