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Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F, Cattoni A, D'Angio' M, Corti P, Maitz S, Pagni F, Seminati D, Pezzoli L, Iascone M, Biondi A, Bonanomi S. Saettini F, et al. Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20. Br J Haematol. 2020. PMID: 32196641 Free article. No abstract available.
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.
Saettini F, Castelli I, Provenzi M, Fazio G, Quadri M, Cazzaniga G, Sala S, Dell'Acqua F, Sieni E, Coniglio ML, Pezzoli L, Iascone M, Vendemini F, Balduzzi AC, Biondi A, Rizzari C, Bonanomi S. Saettini F, et al. Pediatr Hematol Oncol. 2021 Mar;38(2):174-178. doi: 10.1080/08880018.2020.1793849. Epub 2020 Jul 22. Pediatr Hematol Oncol. 2021. PMID: 32696691 No abstract available.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
46 results