Keywords
Autosomal disease
Immunity
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Abstract
Objective: To describe the process of clinical evolution, diagnosis and treatment proposed to the patient. Case detail: Male patient, 4 years old, with a history of onset of bronchospasm at 1 year of age, with diarrhea and adenopathy at 2 years of age. Tonsillitis was also one of the pathologies presented, among other symptoms. The diagnosis was established after analysis of a genetic test that indicated human immunodeficiency of autosomal dominant inheritance and a heterozygous pathogenic variant in the PIK3CD gene. These enzymes act in controlling the inhibition of cell apoptosis, cell cycle regulation and cell growth control, their alteration culminates in changes in immunity. The diagnosis was established in a manner consistent with the findings in the literature, finally the patient's treatment was as recommended. Final considerations: The entire care process offered to the presented patient followed the recommended pattern, this fact raises the preparation of the responsible team, as well as the possibility of quality of life, since the adequate establishment of the diagnosis and treatment can alleviate the suffering.
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