Unrelated Cord Blood Transplantation in Severe Combined Immuno-deficiency (SCID) Patients, the First Report in Iran

Abstract

Severe combined immunodeficiency is a true pediatric emergency; children with SCID were the first patients with immunodeficiencies to be successfully transplanted with unrelated and T-cell-depleted, haploidentical bone marrow. The pattern of inheritance of SCID is X-linked and autosomal recessive (ADA def, Jak3, RAG1, RAG2, IL 7Rα). In this case report, we describe a one-year-old boy with B+T- SCID who received unrelated cord blood transplantation from the Cord Blood Bank in Germany with a 4/6 HLA antigen match. The conditioning regimen was 1mg/kg/day Busulfan and 10mg/kg/day Cyclophosphamide. Both of them were given for two days. GVHD prophylaxis was performed with Cyclosporine A and Methotroxate. Stage III skin GVHD appeared on day 7 and gastric GVHD with a 250-300cc volume appeared on day 8. On day 14, CVP, CRP, LDH and SGOT increased, blood pressure decreased and arrhythmia with T change, AV block, RBBB and bradycardia appeared. With the conclusion of Myocarditis, the patient was treated with diuretics and limitation of liquid intake, Dexamethazone, Dopamine and IVIG. The heart condition was improved gradually. During hospitalization, there was no decrease in platelet count and radiated PRBCS transfusion was performed twice. The patient was discharged on day 60. Donor cell chimerism of 60% was detected with STR-PCR, which was followed up regularly and tapered the immunosuppressive therapy. Unrelated cord blood is a stem cell source in SCID patients and it is a curative treatment in patients without appropriate donors.