ABSTRACT
The authors describe the case of a 28-year-old woman, with a history of recurrent bacterial infections since childhood and multiple hospitalizations for pneumonia, with important pulmonary sequelae, including bronchiectasis which warranted the need to perform a left lobectomy and lingulectomia at age 13. After diagnostic work up, the diagnosis of hypogammaglobulinemia with hyper-IgM was established, and she began regular replacement i.v. immunoglobulin treatment, with good tolerance and no side effects. A sequencing of the entire coding region (exons 1-5) of the AICDA gene was performed, and a homozygous c.260G > C mutation was identified, confirming the diagnosis of type 2 hyper-IgM syndrome. This case illustrates the negative impact that a delay in diagnosis and hence delay in treatment has in patients with primary immunodeficiency since early therapy is the only way to reduce the incidence and severity of complications.
