Premium
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman–Diamond syndrome
Author(s) -
Bezzerri Valentino,
Vella Antonio,
Gennaro Gianfranco Di,
Ortolani Riccardo,
Nicolis Elena,
Cesaro Simone,
Fabrizzi Benedetta,
Bronte Vincenzo,
Corey Seth J.,
Cipolli Marco
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27597
Subject(s) - medicine , neutropenia , immunophenotyping , bone marrow , cohort , peripheral blood , myeloid , anemia , peripheral , bone marrow failure , immunology , pathology , stem cell , chemotherapy , flow cytometry , haematopoiesis , biology , genetics
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.