A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation

Excerpt

We report the case of a 1-year-old Peruvian girl who displayed recurrent infections by Candida albicans and pyogenic bacteria from the neonatal period onward. Our patient was born to non-consanguineous Mestizo parents. There was no family history suggestive of Primary Immunodeficiencies (PIDs). The patient suffered from Candida albicans infections since 3 days of age, predominantly affecting body skin, oral cavity and oropharynx, which required systemic antifungal therapy. Without antifungals the patient developed dysphonia and persistent cough, suggestive of laryngeal and respiratory tract involvement, which completely resolved when antifungal therapy was resumed. Computer tomography of the chest at 3 months of age revealed signs of residual inflammatory process in upper and medium lobes of right lung. Several chest X-rays taken later were not compatible with pneumonic processes. Alveolar lavage was not performed. …