CHARACTERIZATION OF INFECTIONS IN PATIENTS WITH 22Q11.2 DELETION SYNDROME
Keywords:mmunodeficiency, infections, 22q11.2 deletion
Background: The 22q11.2 deletion syndrome (SD22q11.2) has an incidence of 1/2000 to 1/7000 live births. It is characterized by a variable degree of immunodeficiency that predisposes to infections, especially sino-pulmonary.
Material and Methods: A retrospective study of 12 patients with del22q11.2 de novo was performed, focusing on the immunological characteristics and the type and number of documented infections.
Results: The immunological studies showed one patient had severe T lymphopenia T and B lymphopenia with hypogammaglobulinemia associated with Evans syndrome, two patients had transient mild T lymphopenia, six had mild to moderate persistent T lymphopenia and three presented a normal immunological study. The mean incidence of infections was 0,5/year/patient (1,1/year/patient under age three). The most frequent were acute otitis media, pneumonia and bronchiolitis.
Discussion: There was a low number of infections/year/ patient, and these occurred mostly under the age of three years. The sino-pulmonary infections were the most documented and the evolution was generally benign. The transient and age-dependent nature of the immunological changes and the normal immune cell function, rather than the degree of T lymphopenia appear to contribute to this fact.
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