Swati Bhayana, Consultant at Fortis Healthcare, shared an article by Blood Journals Portfolio on X, adding:
“PNP deficiency
Manifestations – Neurological ( developmental delay), infections(IEI), Failure to thrive , AIHA, ITP
Diagnosis – NGS
Treatment – HSCT (86% OS)”
Blood Journals Portfolio shared a post on X:
“HSCT yields satisfactory long-term outcomes in patients with PNP deficiency. OS was best in early-diagnosed patients without neurologic symptoms.”
Title: Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study
Authors: Uli S. Herrmann, Matthias Felber, Austen Worth, Sule Haskologlu, Figen Dogu, Victor A. Lewis, Brigitte Strahm, Andreas Groll, Andrew R. Gennery, Fabian Hauck, Robert Wynn, Mary Coussons, Isabelle Meyts, Caroline Lindemans, Victoria Bordon, Robbert G. M. Bredius, Jörn-Sven Kühl, Mirjam Völler, Felix Zirngibl, Irina Zaidman, Alexandra Laberko, Ulrike Zeilhofer, Mathias Hauri-Hohl, Arjan Lankester, Aydan Ikinciogullari, Gregory M. T. Guilcher, Annette Hackenberg, Akif Yeşilipek, Graham Davies, Kanchan Rao, Michael Steven Hershfield, Suhag H. Parikh, Patrick Gilbert, Claudia Bettoni da Cunha Riehm, Michael H. Albert, Ansgar S. Schulz, Manfred Hönig, Bénédicte Neven, Tayfun Güngör
You can read the full article in Blood.
