Experiencia con ciclofosfamida post-trasplante haploidentico de células madre en un paciente pediátrico con síndrome IPEX: reporte de caso

Background. IPEX syndrome is a rare hemizygous X-linked disorder with complex autoimmune reactions, characterized by immune dysregulation, polyendocrinopathy, and enteropathy. They have poor prognoses, with a high mortality risk without prompt therapy. The treatment options include immunosuppressive medication, nutritional and supportive care, and hematopoietic stem cell transplantation HSCT as the only curative option.Case report. We present a male infant, the second child of a non-consanguineous couple, with negative prenatal screening and intrauterine growth retardation detected at 27 weeks’ gestation. He was diagnosed with neonatal diabetes mellitus treated with insulin. He had a second hospitalization due to secretory diarrhea and rotavirus infection where he was diagnosed with failure to thrive and hypothyroidism. He acquired multiple severe infections including Candida parapsilosis fungemia, an ESBL Escherichia coli urinary infection, and Klebsiella pneumoniae bacteremia. Biopsy of endoscopy reported findings of chronic duodenitis with absence of goblet and paneth cells suggestive of autoimmune enteropathy. A FOXP3 gene mutation was found confirming IPEX syndrome diagnosis. HSCT from alternative haploidentical donor with a cyclophosphamide post-transplantation regime was performed. At 320 days post-transplant, the patient fully recovered his nutritional status and immunity.Conclusión. Haploidentical transplantation with a post-transplantation cyclophosphamide regime can be a viable therapeutic option for patients with IPEX syndrome who do not have an HLA-identical donor, with promising outcomes according to the follow up. The report of these experiences with haploidentical HSCT in inborn errors of immunity and other non-malignant diseases contributes to the growing evidence of this regime.