Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.
Adolescent
Adult
B-Lymphocytes
/ immunology
Bone Marrow Diseases
/ blood
Case-Control Studies
Child
Child, Preschool
Cohort Studies
Exocrine Pancreatic Insufficiency
/ blood
Female
Follow-Up Studies
Humans
Immunophenotyping
/ methods
Infant
Leukocytes, Mononuclear
/ immunology
Lipomatosis
/ blood
Male
Prognosis
Shwachman-Diamond Syndrome
Young Adult
Shwachman-Diamond syndrome
bone marrow failure
double-negative T cells
immunophenotype
neutropenia
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
18
07
2018
revised:
07
12
2018
accepted:
10
12
2018
pubmed:
4
1
2019
medline:
30
11
2019
entrez:
4
1
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30604473
doi: 10.1002/pbc.27597
pmc: PMC8354004
mid: NIHMS1003587
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27597Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL128173
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA159203
Pays : United States
Organisme : NIH HHS
ID : R01-HL128173
Pays : United States
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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