Schober Sarah, Döring Michaela, Lang Peter, Schulte Johannes, Olivieri Martin, Icheva Vanya
Department I-Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children's Hospital Tuebingen, Tuebingen, Germany.
Paediatric Thrombosis and Haemostasis Unit, Paediatric Haemophilia Center, Dr. von Hauner Children's Hospital, Ludwig Maximilian University Clinic, Munich, Germany.
Res Pract Thromb Haemost. 2025 Mar 30;9(3):102842. doi: 10.1016/j.rpth.2025.102842. eCollection 2025 Mar.
Severe combined immunodeficiency (SCID) and severe hemophilia A are 2 rare and potentially life-threatening congenital diseases. The coincidence of these diseases has not been reported so far.
We present the first case of a newborn with both diseases. SCID can be treated with hematopoietic stem cell transplantation (HSCT). However, how to successfully manage a newborn with severe hemophilia A during intensive HSCT treatment is the key clinical question of this case report.
Prophylactic factor (F)VIII substitution during HSCT was performed with an extended half-life FVIII product (efmoroctocog alfa). The platelet count was a major factor influencing the dosage of FVIII. No bleeding complications or FVIII inhibitors occurred during this individualized management.
This is the first case report of a newborn suffering from both SCID and severe hemophilia A. HSCT is feasible in this situation without bleeding complications if an individual substitution regimen with FVIII is applied.
重症联合免疫缺陷（SCID）和重度甲型血友病是两种罕见且可能危及生命的先天性疾病。目前尚未见这两种疾病并存的报道。
我们报告了首例同时患有这两种疾病的新生儿病例。SCID可通过造血干细胞移植（HSCT）进行治疗。然而，在强化HSCT治疗期间如何成功管理患有重度甲型血友病的新生儿是本病例报告的关键临床问题。
在HSCT期间使用延长半衰期的FVIII产品（重组人凝血因子VIII）进行预防性VIII因子（F）替代治疗。血小板计数是影响FVIII剂量的主要因素。在这种个体化管理过程中未发生出血并发症或FVIII抑制剂。
这是首例同时患有SCID和重度甲型血友病的新生儿病例报告。如果应用FVIII个体化替代方案，在这种情况下进行HSCT是可行的，且无出血并发症。
