Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature

Background: 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. Key Clinical Question: We present the first case of a newborn with both diseases. SCID can be t...

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Main Authors: Sarah Schober, Michaela Döring, Peter Lang, Johannes Schulte, Martin Olivieri, Vanya Icheva
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Research and Practice in Thrombosis and Haemostasis
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Online Access:http://www.sciencedirect.com/science/article/pii/S2475037925001669
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author Sarah Schober
Michaela Döring
Peter Lang
Johannes Schulte
Martin Olivieri
Vanya Icheva
author_facet Sarah Schober
Michaela Döring
Peter Lang
Johannes Schulte
Martin Olivieri
Vanya Icheva
author_sort Sarah Schober
collection DOAJ
description Background: 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. Key Clinical Question: 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. Clinical Approach: 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. Conclusion: 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.
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series Research and Practice in Thrombosis and Haemostasis
spelling doaj-art-9b5ba7b23d884c7daba8407bfbd236792025-08-20T02:05:10ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792025-03-019310284210.1016/j.rpth.2025.102842Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literatureSarah Schober0Michaela Döring1Peter Lang2Johannes Schulte3Martin Olivieri4Vanya Icheva5Department I–Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children’s Hospital Tuebingen, Tuebingen, Germany; Correspondence Sarah Schober, Department I – Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children’s Hospital Tuebingen, Hoppe-Seyler-Str. 1, 72076 Tuebingen, Germany.Department I–Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children’s Hospital Tuebingen, Tuebingen, GermanyDepartment I–Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children’s Hospital Tuebingen, Tuebingen, GermanyDepartment I–Haematology, Oncology, Gastroenterology, Nephrology, Rheumatology, University Children’s Hospital Tuebingen, Tuebingen, GermanyPaediatric Thrombosis and Haemostasis Unit, Paediatric Haemophilia Center, Dr. von Hauner Children’s Hospital, Ludwig Maximilian University Clinic, Munich, GermanyDepartment II–Paediatric Cardiology, Intensive Care Medicine and Pulmonology, University Children’s Hospital Tuebingen, Tuebingen, GermanyBackground: 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. Key Clinical Question: 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. Clinical Approach: 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. Conclusion: 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.http://www.sciencedirect.com/science/article/pii/S2475037925001669case reportshematopoietic stem cell transplantationnewbornsevere combined immunodeficiencyhemophilia A
spellingShingle Sarah Schober
Michaela Döring
Peter Lang
Johannes Schulte
Martin Olivieri
Vanya Icheva
Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
Research and Practice in Thrombosis and Haemostasis
case reports
hematopoietic stem cell transplantation
newborn
severe combined immunodeficiency
hemophilia A
title Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
title_full Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
title_fullStr Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
title_full_unstemmed Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
title_short Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature
title_sort hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia a a case report and review of the literature
topic case reports
hematopoietic stem cell transplantation
newborn
severe combined immunodeficiency
hemophilia A
url http://www.sciencedirect.com/science/article/pii/S2475037925001669
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