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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.
- Authors
Saettini, Francesco; Cattoni, Alessandro; D'Angio', Mariella; Corti, Paola; Maitz, Silvia; Pagni, Fabio; Seminati, Davide; Pezzoli, Laura; Iascone, Maria; Biondi, Andrea; Bonanomi, Sonia
- Abstract
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome Keywords: inborn error of immunity; severe congenital neutropenia; Shwachman-Diamond syndrome; SRP54 EN inborn error of immunity severe congenital neutropenia Shwachman-Diamond syndrome SRP54 e171 e174 4 05/19/20 20200515 NES 200515 Congenital neutropenias (CN) are rare heterogeneous inborn errors of immunity (Fig 1A).[[1]] Recently, I SRP54 i mutations have been described in patients with profound and chronic neutropenia associated with Shwachman-Diamond Syndrome (SDS) (OMIM #260400) phenotype (Fig 2A).[[3], [5]] SRP54 is an evolutionarily conserved signal recognition particle (SRP) involved in ribosomal protein translation. Finally, we think it should be emphasised that an I SRP54 i mutation should be considered in the differential diagnosis of patients with suspected congenital neutropenia, occasionally normal neutrophil count and absence of maturation block at the promyelocyte/myelocyte stage in the bone marrow.
- Subjects
EXOCRINE pancreatic insufficiency; BONE marrow; GRANULOCYTE-colony stimulating factor; ACUTE myeloid leukemia; SYNDROMES
- Publication
British Journal of Haematology, 2020, Vol 189, Issue 4, pe171
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.16585