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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoğlu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B. Harapas CR, et al. Among authors: tamary h. Sci Immunol. 2022 Sep 16;7(75):eabi4611. doi: 10.1126/sciimmunol.abi4611. Epub 2022 Sep 16. Sci Immunol. 2022. PMID: 36112693 Free PMC article.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Seo A, et al. Among authors: tamary h. Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30. Blood. 2017. PMID: 28559357 Free PMC article.
Prolonged course of familial hemophagocytic lymphohistiocytosis.
Steinberg O, Yacobovich J, Dgany O, Kodman Y, Livni G, Rachmel A, Stein J, Yaniv I, Tamary H. Steinberg O, et al. Among authors: tamary h. J Pediatr Hematol Oncol. 2006 Dec;28(12):831-3. doi: 10.1097/MPH.0b013e31802d3a96. J Pediatr Hematol Oncol. 2006. PMID: 17164654
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H. Lebel A, et al. Among authors: tamary h. Pediatr Blood Cancer. 2015 Jan;62(1):103-8. doi: 10.1002/pbc.25251. Epub 2014 Oct 4. Pediatr Blood Cancer. 2015. PMID: 25284454
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Steinberg-Shemer O, et al. Among authors: tamary h. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. J Pediatr Hematol Oncol. 2016. PMID: 27258031 Free PMC article.
Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome.
Yanir AD, Krauss A, Stein J, Steinberg-Shemer O, Gilad O, Lotan SN, Dgany O, Krasnov T, Kodman Y, Feuerstein T, Mardoukh J, Fishman H, Geron I, Yacobovich J, Tamary H, Birger Y, Avrahami G, Izraeli S, Birenboim SB. Yanir AD, et al. Among authors: tamary h. Pediatr Blood Cancer. 2021 Oct;68(10):e29138. doi: 10.1002/pbc.29138. Epub 2021 May 21. Pediatr Blood Cancer. 2021. PMID: 34019335
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: tamary h. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
185 results