[Allogeneic Hematopoietic Stem Cell Transplantation for Children with Hyper-IgE Syndrome].

OBJECTIVE

To summarize the clinical characteristics, treatment outcomes, and prognosis of two children with STAT3 gene mutation-associated hyper-IgE syndrome(HIES) who underwent allogeneic hematopoietic stem cell transplantation(allo-HSCT).

METHODS

A retrospective analysis was performed on two pediatric patients with STAT3-mutated HIES (STAT3-HIES) who received allo-HSCT. Data included baseline clinical features, transplant protocols, post-transplant outcomes, complications (graft-versus-host disease, infection, virus reactivation), serum IgE levels, and long-term follow-up.

RESULTS

The two patients (one male, one female; ages 2 years 10 months and 10 years 10 months at transplant) received peripheral blood stem cells from HLA 9/10-matched unrelated donors and were conditioned with the classic BUCY regimen(busulfan+cyclophosphamide+antithymocyte globulin). Neutrophils and platelets engraftment were achieved on day+11 and day +9/+11, respectively. Complete donor chimerism(100%) was confirmed on day+15 post-transplant. No grade II-IV acute GVHD or viral reactivation occurred. Serum IgE levels decreased markedly at 30 days post-transplant compared to pre-transplant. Pulmonary CT findings (e.g., infection foci,cavitation) improved significantly. By the last follow-up (April 30, 2025), both children survived, and their quality of life improved significantly (infection control, resolution of skin eczema, and improvementin organ function).

CONCLUSION

For children with STAT3-mutated HIES who experience recurrent severe respiratory infections impairing quality of life, allo-HSCT with a suitable donor can effectively control infection, improve immune abnormalities, and long-term outcomes.