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. 2019 May;66(5):e27597.
doi: 10.1002/pbc.27597. Epub 2019 Jan 2.

Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome

Valentino Bezzerri  1 , Antonio Vella  2 , Gianfranco Di Gennaro  3 , Riccardo Ortolani  2 , Elena Nicolis  4 , Simone Cesaro  5 , Benedetta Fabrizzi  1 , Vincenzo Bronte  2 , Seth J Corey  6 , Marco Cipolli  1
Affiliations

Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome

Valentino Bezzerri et al. Pediatr Blood Cancer. 2019 May.

Abstract

Shwachman-Diamond syndrome (SDS) is one of the more common inherited bone marrow failure syndromes, characterized by neutropenia, occasional thrombocytopenia, and anemia. Bone marrow evaluation reveals an increased number of monocytes and mature B cells along with decreased granulocytes. However, little is known about the subpopulations of peripheral blood cells, and few previous publications have been based on a small number of patients. Here, we report a comprehensive immunophenotypic analysis from a cohort of 37 SDS patients who display impairment mostly in the myeloid compartment with a deficiency also in the number of B cells and CD4/CD8 double-negative T cells.

Keywords: Shwachman-Diamond syndrome; bone marrow failure; double-negative T cells; immunophenotype; neutropenia.

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Conflict of interest statement

Conflict of Interest Statement

Authors disclose no competing interests.

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