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Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency:

Julian Thalhammer1,2, Bénédicte Bruno1, Sylvain Latour3

  • 1Department of Pediatric Hematology, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.

Journal of Human Immunity
|May 22, 2026
PubMed

We 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.

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