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2017, Number 3

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Rev Cub Gen 2017; 11 (3)

Humoral immune response and clinical manifestations of immune dysregulation in patients with Type 1 Neurofibromatosis

Torres RB, Martínez TG, Lantigua CPA, Zúñiga RY, Tassé VD, Pérez RJ, Rodriguez PC

Language: Spanish
References: 19
Page: 19-24
PDF size: 307.08 Kb.


ABSTRACT

Antibodies are indispensable for an effective immune response against pathogens. In the RASopathies as type 1 neurofibromatosis, mutated proteins have important functions in the regulation of the immune system. We aimed to identify the clinical manifestations of immune dysregulation and alterations of the humoral immune response in patients with type 1 Neurofibromatosis. A descriptive study of cases series was carried out. We studied 8 pediatric patients with clinical diagnosis of type 1 neurofibromatosis from the Medical Genetics clinic of the Hospital “Juan Manuel Márquez”. Total serum immunoglobulin levels and subclasses of G immunoglobulin were measured, as well as the determination of the response to tetanus and diphtheria toxoid. Recurrent respiratory infections were the main clinical manifestations to suspect immune dysregulation. The 50.0% of the patients presented a decrease in serum immunoglobulins. Only the 25.5% and 12.5% presented a reliable long-term protection against tetanus and diphtheria toxoids, respectively. The obtained results showed alterations on humoral immune response and clinical manifestations of immune dysregulation in patients with type 1 Neurofibromatosis, that justified the need of its evaluation by an immunologist.


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