Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report
Thalhammer et al. report two siblings with hematopoietic protein 1 (HEM1), also named Nck-associated protein 1-like (NCKAP1L), deficiency and varying clinical phenotype and the first case of successful hematopoietic stem cell transplantation for recurrent infections and EBV-induced hemophagocytic lymphohistiocytosis, showing curative potential.
Authors
- Julian Thalhammer (ORCID: https://orcid.org/0000-0002-0226-1955)
- Wadih Abou Chahla
- Sylvain Latour
- Bénédicte Bruno
- Benjamin Fournier
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Sorbonne Nouvelle (FR)
- Hôpital Jeanne de Flandre (FR)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-02-24
- DOI
- https://doi.org/10.70962/jhi.20250228
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00