Use of interferon gamma following prrimary graft failure after hematopoietic stem cell transplantation in a patient with chronic granulomatous disease in a public hospital in Peru: a case report

• Autores: Ruiz, Pedro, Alegre Yataco, Paola Stephanie, Rivera Castillo, Fernando Rubén, Aldave Becerra, Juan Carlos
• Formato: artículo
• Fecha de Publicación: 2025
• Institución: Universidad de San Martín de Porres
• Repositorio: Horizonte médico
• Lenguaje: español
• OAI Identifier: oai:horizontemedico.usmp.edu.pe:article/2884
• Enlace del recurso: https://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/2884
• Nivel de acceso: acceso abierto
• Materia: Interferón Tipo I; Enfermedad Granulomatosa Crónica; Trasplante de Médula Ósea; Interferon Type I; Granulomatous Disease, Chronic; Bone Marrow Transplantation

We present the case of a male patient aged one year and six months, diagnosed with chronicgranulomatous disease since the first month of life, due to a mutation in the CYBB gene. Earlydiagnosis was possible due to a family history of the same disease in an older brother aged 11years and the detection of the mutation in the mother (carrier). The patient had a history of twohospitalizations. The first lasted five months and was due to a diagnosis of community-acquiredpneumonia, complicated by respiratory failure, acute infectious diarrhea due to Pseudomonasaeruginosa and cytomegalovirus infection. The second hospitalization occurred at 11 months ofage due to sepsis of gastrointestinal and respiratory origin.The patient received antimicrobial prophylaxis with trimethoprim-sulfamethoxazole, itraconazoleand acyclovir, along with monthly intravenous immunoglobulin infusions, with limited response.During the first hospitalization, at five months of age, a hematopoietic stem cell transplant wasattempted using his father as the donor; however, 0 % chimerism was achieved. Since October 2024 (at 12 months of age), subcutaneous interferon gamma therapy was initiated—representing the first reported case of its use inPeru. Currently, six months after the initiation of interferon gamma therapy, the patient has not experienced any new infectiousepisodes. Only three mild adverse reactions were reported following 98 doses. This case demonstrates the clinical utility andsafety of interferon gamma in individuals with chronic granulomatous disease. Patients who, for various reasons, are unable toaccess definitive bone marrow transplantation may receive it in combination with standard antimicrobial prophylaxis.