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HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

Lookup NU author(s): Dr Alexandra Laberko, Dr Mario Abinun, Professor Roderick Skinner, Professor Andrew Gennery

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Abstract

© 2020 American Academy of Allergy, Asthma & ImmunologyBackground: Proline-serine-threonine phosphatase-interacting protein 1–associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hyperzincemia with inflammatory complications accompanied by cytopenia. Immunosuppressive and/or anticytokine therapy is of limited effect. Objectives: Because of cytokine production in nonhematopoietic tissues, the potential therapeutic effect of allogeneic hematopoietic stem cell transplantation (HSCT) in autoinflammatory disorders, including PAMI syndrome, has remained uncertain. Methods: Five patients with PAMI syndrome underwent allogeneic HSCT with myeloablative (4) or reduced-intensity (1) conditioning regimens. Lack of PAMI disease control served as indication for the HSCT in 4 patients and myelodysplastic syndrome development in 1. Results: All 5 patients engrafted; however, 1 patient at day +13 developed hemophagocytic syndrome, followed by graft rejection at day +17. After 5.5 months, a second HSCT was performed from an alternative donor. A further patient at day +116 developed an intense inflammatory syndrome with significant serositis and severe mitral and aortic valve regurgitation, controlled with adalimumab, tacrolimus, and prednisone. No other noninfectious inflammatory episodes, or acute or chronic graft-versus-host disease, occurred in any patient. At the last follow-up (median, 2.2 years), all 5 patients have predominantly or complete donor chimerism and adequate immune recovery and are free of any PAMI symptoms. Conclusions: Allogeneic HSCT seems to be an effective option to cure cytopenia and severe autoinflammation in PAMI syndrome and may be a curative option for other proline-serine-threonine phosphatase-interacting protein 1–associated inflammatory disorders with poor therapeutic control.


Publication metadata

Author(s): Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A, Suri D, Lehmberg K, Muller I, Balashov D, Novichkova G, Holzinger D, Gennery AR, Shcherbina A

Publication type: Article

Publication status: Published

Journal: Journal of Allergy and Clinical Immunology

Year: 2021

Pages: epub ahead of print

Online publication date: 14/12/2020

Acceptance date: 12/11/2020

ISSN (print): 0091-6749

ISSN (electronic): 1097-6825

Publisher: Mosby Inc.

URL: https://doi.org/10.1016/j.jaci.2020.11.043

DOI: 10.1016/j.jaci.2020.11.043

PubMed id: 33338535


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