Polina Stepensky1, Irina Zaidman1, Yael Dinur Schejter2, Ehud Even-Or1, Bella Shadur1,3,4, Adeeb NaserEddin1. 1. Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 2. Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. yaelsch@hadassah.org.il. 3. Immunology Division, Garvan Institute of Medical Research, Sydney, Australia. 4. Graduate Research School, University of New South Wales, Sydney, Australia.
Abstract
PURPOSE: 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. METHODS: Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted. RESULTS: 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. CONCLUSION: 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.
PURPOSE: 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. METHODS: Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted. RESULTS: 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. CONCLUSION: 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.
Authors: Sung-Yun Pai; Brent R Logan; Linda M Griffith; Rebecca H Buckley; Roberta E Parrott; Christopher C Dvorak; Neena Kapoor; Imelda C Hanson; Alexandra H Filipovich; Soma Jyonouchi; Kathleen E Sullivan; Trudy N Small; Lauri Burroughs; Suzanne Skoda-Smith; Ann E Haight; Audrey Grizzle; Michael A Pulsipher; Ka Wah Chan; Ramsay L Fuleihan; Elie Haddad; Brett Loechelt; Victor M Aquino; Alfred Gillio; Jeffrey Davis; Alan Knutsen; Angela R Smith; Theodore B Moore; Marlis L Schroeder; Frederick D Goldman; James A Connelly; Matthew H Porteus; Qun Xiang; William T Shearer; Thomas A Fleisher; Donald B Kohn; Jennifer M Puck; Luigi D Notarangelo; Morton J Cowan; Richard J O'Reilly Journal: N Engl J Med Date: 2014-07-31 Impact factor: 91.245
Authors: Anna Eichinger; Horst von Bernuth; Michael H Albert; Fabian Hauck; Cinzia Dedieu; Sebastian A Schroeder; Giancarlo la Marca Journal: J Clin Immunol Date: 2021-02-27 Impact factor: 8.317