Case report shows successful treatment of recurrent infections in siblings with HEM1 deficiency, indicating potential for curative methods.
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.
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Thalhammer et al. (2026) studied this question.
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