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

被引：6

作者：

Bezzerri, Valentino ^{[1
]}

Vella, Antonio ^{[2
]}

Di Gennaro, Gianfranco ^{[3
]}

Ortolani, Riccardo ^{[2
]}

Nicolis, Elena ^{[4
]}

Cesaro, Simone ^{[5
]}

Fabrizzi, Benedetta ^{[1
]}

Bronte, Vincenzo ^{[2
]}

Corey, Seth J. ^{[6
]}

Cipolli, Marco ^{[1
]}

机构：

[1] Azienda Osped Univ Osped Riuniti, Cyst Fibrosis Ctr, Via Conca 71, I-60126 Ancona, Italy

[2] Azienda Osped Univ Integrata, Immunol Unit, Verona, Italy

[3] Azienda Osped Univ Integrata, Dept Pathol & Diagnost, Verona, Italy

[4] Azienda Osped Univ Integrata, Unit Transfus Med, Verona, Italy

[5] Azienda Osped Univ Integrata, Unit Pediat Hematol Oncol, Verona, Italy

[6] Cleveland Clin, Dept Pediat Hematol Oncol & Stem Cell Transplanta, Cleveland, OH 44106 USA

来源：

PEDIATRIC BLOOD & CANCER | 2019年 / 66卷 / 05期

基金：

美国国家卫生研究院;

关键词：

bone marrow failure; double-negative T cells; immunophenotype; neutropenia; Shwachman-Diamond syndrome; REGULATORY T-CELLS; NEUTROPENIA; MECHANISMS; SBDS;

D O I：

10.1002/pbc.27597

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：6

共 16 条

[1] Laboratory Accuracy Improvement in the UK NEQAS Leucocyte Immunophenotyping Immune Monitoring Program: An Eleven-Year Review via Longitudinal Mixed Effects Modeling [J].

Bainbridge, John ;

Rountree, Wes ;

Louzao, Raul ;

Wong, John ;

Whitby, Liam ;

Denny, Thomas N. ;

Barnett, David .

CYTOMETRY PART B-CLINICAL CYTOMETRY, 2018, 94 (02) :250-256

[2] Mutations in SBDS are associated with Shwachman-Diamond syndrome [J].

Boocock, GRB ;

Morrison, JA ;

Popovic, M ;

Richards, N ;

Ellis, L ;

Durie, PR ;

Rommens, JM .

NATURE GENETICS, 2003, 33 (01) :97-101

[3] Role of double-negative regulatory T cells in long-term cardiac xenograft survival [J].

Chen, WH ;

Ford, MS ;

Young, KJ ;

Cybulsky, MI ;

Zhang, L .

JOURNAL OF IMMUNOLOGY, 2003, 170 (04) :1846-1853

[4] Shwachman-Diamond syndrome: Clinical phenotypes [J].

Cipolli, M .

PANCREATOLOGY, 2001, 1 (05) :543-548

[5] CD3+CD4-CD8- (double negative) T cells: Saviours or villains of the immune response? [J].

D'Acquisto, Fulvio ;

Crompton, Tessa .

BIOCHEMICAL PHARMACOLOGY, 2011, 82 (04) :333-340

[6]

Donadieu J, 2005, HAEMATOLOGICA, V90, P45

[7] Immune function in patients with Shwachman-Diamond syndrome [J].

Dror, Y ;

Ginzberg, H ;

Dalal, I ;

Cherepanov, V ;

Downey, G ;

Durie, P ;

Roifman, CM ;

Freedman, MH .

BRITISH JOURNAL OF HAEMATOLOGY, 2001, 114 (03) :712-717

[8] Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome [J].

Finch, Andrew J. ;

Hilcenko, Christine ;

Basse, Nicolas ;

Drynan, Lesley F. ;

Goyenechea, Beatriz ;

Menne, Tobias F. ;

Gonzalez Fernandez, Africa ;

Simpson, Paul ;

D'Santos, Clive S. ;

Arends, Mark J. ;

Donadieu, Jean ;

Bellanne-Chantelot, Christine ;

Costanzo, Michael ;

Boone, Charles ;

McKenzie, Andrew N. ;

Freund, Stefan M. V. ;

Warren, Alan J. .

GENES & DEVELOPMENT, 2011, 25 (09) :917-929

[9] Expression profiling of murine double-negative regulatory T cells suggest mechanisms for prolonged cardiac allograft survival [J].

Lee, BPL ;

Mansfield, E ;

Hsieh, SC ;

Hernandez-Boussard, T ;

Chen, WH ;

Thomson, CW ;

Ford, MS ;

Bosinger, SE ;

Der, S ;

Zhang, ZX ;

Zhang, MX ;

Kelvin, DJ ;

Sarwal, MM ;

Zhang, L .

JOURNAL OF IMMUNOLOGY, 2005, 174 (08) :4535-4544

[10] Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome [J].

Mercuri, Angela ;

Cannata, Elisa ;

Perbellini, Omar ;

Cugno, Chiara ;

Balter, Rita ;

Zaccaron, Ada ;

Tridello, Gloria ;

Pizzolo, Giovanni ;

De Bortoli, Massimiliano ;

Krampera, Mauro ;

Cipolli, Marco ;

Cesaro, Simone .

EUROPEAN JOURNAL OF HAEMATOLOGY, 2015, 95 (04) :308-315

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