Introduction: SCID is a medical emergency with the indication for early marrow transplantation. Graft-versus-host disease (GVHD) is a complication of transplantation, usually treated with cyclosporine.
Presentation of the case: Boy, at five months, presented axillary lymph node enlargement and disseminated skin lesions, and disseminated BCGitis was diagnosed. In our service, he was diagnosed with SCID T-B+NK-. He received a haploidentical transplant of bone marrow in December/2020. In April, he presented vomiting, without diarrhea, with dehydration, followed by subcutaneous nodules. Biopsies of the upper digestive tract and skin did not reveal active mycobacteriosis. He began to present diffuse rash when cyclosporine was reduced. Diagnosis of GVHD in skin and stomach biopsies (July/2021). With an increase in the dose of cyclosporine, he presented hemolytic anemia. In August/2021, she presented with severe systemic inflammation with multiple organ involvement, possibly secondary to SARS-Cov-2 infection, resolved with corticosteroid therapy and tocilizumab.
The patient evolved with intestinal insufficiency, no diarrhea, malnutrition (despite complete parenteral nutrition), diffuse corticosteroid-resistant rash, and sirolimus. In May/2022, after multiple unsuccessful attempts at diet progression, an ileostomy allowed intestinal biopsy at numerous sites, confirming GVHD in the lower digestive tract. Ruxolitinib was started with rapid skin improvement and general condition/mood, followed by tolerance to enteral tube feeding, with a gain of 2 kg in 40 days. He was discharged from the hospital after more than a year of hospitalization. At the end of June 2023, we could discontinue ruxolitinib with no return of GVHD successfully.
Discussion: ruxolitinib is a selective Janus Kinase inhibitor proposed for treating GVHD. We report the successful use of this drug, without significant adverse effects, in treating chronic GVHD resistant to usual therapy in pediatric patients.