Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome

Francesco Saettini; Alessandro Cattoni; Mariella D’Angio’; Paola Corti; Silvia Maitz; Fabio Pagni; Davide Seminati; Laura Pezzoli; Maria Iascone; Andrea Biondi; Sonia Bonanomi

doi:10.1111/bjh.16585

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome

Francesco Saettini, Alessandro Cattoni, Mariella D’Angio’, Paola Corti, Silvia Maitz, Fabio Pagni, Davide Seminati, Laura Pezzoli, Maria Iascone, Andrea Biondi, Sonia Bonanomi

Research output: Contribution to journal › Letter › peer-review

15 Scopus citations

Original language	English
Pages (from-to)	e171-e174
Journal	British Journal of Haematology
Volume	189
Issue number	4
DOIs	https://doi.org/10.1111/bjh.16585
State	Published - 1 May 2020
Externally published	Yes

Keywords

SRP54
Shwachman-Diamond syndrome
inborn error of immunity
severe congenital neutropenia

Access to Document

10.1111/bjh.16585

Cite this

Saettini, F., Cattoni, A., D’Angio’, M., Corti, P., Maitz, S., Pagni, F., Seminati, D., Pezzoli, L., Iascone, M., Biondi, A., & Bonanomi, S. (2020). Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome. British Journal of Haematology, 189(4), e171-e174. https://doi.org/10.1111/bjh.16585

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title = "Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome",

keywords = "SRP54, Shwachman-Diamond syndrome, inborn error of immunity, severe congenital neutropenia",

author = "Francesco Saettini and Alessandro Cattoni and Mariella D{\textquoteright}Angio{\textquoteright} and Paola Corti and Silvia Maitz and Fabio Pagni and Davide Seminati and Laura Pezzoli and Maria Iascone and Andrea Biondi and Sonia Bonanomi",

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doi = "10.1111/bjh.16585",

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Saettini, F, Cattoni, A, D’Angio’, M, Corti, P, Maitz, S, Pagni, F, Seminati, D, Pezzoli, L, Iascone, M, Biondi, A & Bonanomi, S 2020, 'Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome', British Journal of Haematology, vol. 189, no. 4, pp. e171-e174. https://doi.org/10.1111/bjh.16585

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome. / Saettini, Francesco; Cattoni, Alessandro; D’Angio’, Mariella et al.
In: British Journal of Haematology, Vol. 189, No. 4, 01.05.2020, p. e171-e174.

Research output: Contribution to journal › Letter › peer-review

TY - JOUR

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AU - Saettini, Francesco

AU - Cattoni, Alessandro

AU - D’Angio’, Mariella

AU - Corti, Paola

AU - Maitz, Silvia

AU - Pagni, Fabio

AU - Seminati, Davide

AU - Pezzoli, Laura

AU - Iascone, Maria

AU - Biondi, Andrea

AU - Bonanomi, Sonia

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KW - Shwachman-Diamond syndrome

KW - inborn error of immunity

KW - severe congenital neutropenia

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