The Broad Clinical Spectrum and Transplant Results of PNP Deficiency

• DOI: 10.1007/s10875-019-00698-1
• Publication Date: 2019-11-09T15:02:42Z
• Authors: Yael Dinur Schejter; Ehud Even-Or; Bella Shadur; Adeeb NaserEddin; Polina Stepensky; Irina Zaidman
• Keywords: Male; 0301 basic medicine; Purine-Pyrimidine Metabolism, Inborn Errors; Transplantation Conditioning; Primary Immunodeficiency Diseases; Hematopoietic Stem Cell Transplantation; Infant; 3. Good health; 03 medical and health sciences; Purine-Nucleoside Phosphorylase; Child, Preschool; Humans; Female; Severe Combined Immunodeficiency; Israel; Bone Marrow Transplantation; Retrospective Studies

Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined immunodeficiency with a heterogeneous clinical presentation. We aim to add to the expanding clinical spectrum of disease, and to summarize the available data on bone marrow transplant for this condition.Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted.Four patients were treated in two centers in Israel. One patient died of EBV-related lymphoma with CNS involvement prior to transplant. The other three patients underwent successful HSCT with good immune reconstitution post-transplant (follow-up 8-108 months) and excellent neurological outcomes.PNP is a variable immunodeficiency and should be considered in various clinical contexts, with or without neurological manifestations. HSCT offers a good treatment option, with excellent clinical outcomes, when preformed in a timely manner.