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

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HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. / Laberko, Alexandra; Burlakov, Vasiliy; Maier, Sarah; Abinun, Mario; Skinner, Roderick; Kozlova, Anna; Suri, Deepti; Lehmberg, Kai; Müller, Ingo; Balashov, Dmitry; Novichkova, Galina; Holzinger, Dirk; Gennery, Andrew R; Shcherbina, Anna.

In: J ALLERGY CLIN IMMUN, Vol. 148, No. 1, 07.2021, p. 250-255.e1.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Laberko, A, Burlakov, V, Maier, S, Abinun, M, Skinner, R, Kozlova, A, Suri, D, Lehmberg, K, Müller, I, Balashov, D, Novichkova, G, Holzinger, D, Gennery, AR & Shcherbina, A 2021, 'HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome', J ALLERGY CLIN IMMUN, vol. 148, no. 1, pp. 250-255.e1. https://doi.org/10.1016/j.jaci.2020.11.043

APA

Laberko, A., Burlakov, V., Maier, S., Abinun, M., Skinner, R., Kozlova, A., Suri, D., Lehmberg, K., Müller, I., Balashov, D., Novichkova, G., Holzinger, D., Gennery, A. R., & Shcherbina, A. (2021). HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. J ALLERGY CLIN IMMUN, 148(1), 250-255.e1. https://doi.org/10.1016/j.jaci.2020.11.043

Vancouver

Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A et al. HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. J ALLERGY CLIN IMMUN. 2021 Jul;148(1):250-255.e1. https://doi.org/10.1016/j.jaci.2020.11.043

Bibtex

@article{cee630326db04f6d9ef70dec4a8cd46e,
title = "HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome",
abstract = "BACKGROUND: 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.",
author = "Alexandra Laberko and Vasiliy Burlakov and Sarah Maier and Mario Abinun and Roderick Skinner and Anna Kozlova and Deepti Suri and Kai Lehmberg and Ingo M{\"u}ller and Dmitry Balashov and Galina Novichkova and Dirk Holzinger and Gennery, {Andrew R} and Anna Shcherbina",
note = "Copyright {\textcopyright} 2020 American Academy of Allergy, Asthma & Immunology. All rights reserved.",
year = "2021",
month = jul,
doi = "10.1016/j.jaci.2020.11.043",
language = "English",
volume = "148",
pages = "250--255.e1",
journal = "J ALLERGY CLIN IMMUN",
issn = "0091-6749",
publisher = "Mosby Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

AU - Laberko, Alexandra

AU - Burlakov, Vasiliy

AU - Maier, Sarah

AU - Abinun, Mario

AU - Skinner, Roderick

AU - Kozlova, Anna

AU - Suri, Deepti

AU - Lehmberg, Kai

AU - Müller, Ingo

AU - Balashov, Dmitry

AU - Novichkova, Galina

AU - Holzinger, Dirk

AU - Gennery, Andrew R

AU - Shcherbina, Anna

N1 - Copyright © 2020 American Academy of Allergy, Asthma & Immunology. All rights reserved.

PY - 2021/7

Y1 - 2021/7

N2 - BACKGROUND: 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.

AB - BACKGROUND: 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.

U2 - 10.1016/j.jaci.2020.11.043

DO - 10.1016/j.jaci.2020.11.043

M3 - SCORING: Journal article

C2 - 33338535

VL - 148

SP - 250-255.e1

JO - J ALLERGY CLIN IMMUN

JF - J ALLERGY CLIN IMMUN

SN - 0091-6749

IS - 1

ER -