Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.

B-Lymphocytes Child Flow Cytometry Humans Jacobsen Distal 11q Deletion Syndrome Killer Cells, Natural Lymphocyte Count
B lymphocytes Immunoglobulins Jacobsen syndrome T lymphocytes

Journal

Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137

Informations de publication

Date de publication:
02 2022
Historique:
received: 29 09 2021
accepted: 28 10 2021
pubmed: 22 11 2021
medline: 5 3 2022
entrez: 21 11 2021
Statut: ppublish

Résumé

Jacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed immunological data from JS patients are limited. Clinical and immunological presentation of twelve pediatric patients with JS by means of revision of clinical records, flow cytometry, real-time PCR, and lymphocyte functional testing were collected. Recurrent infections were registered in 6/12 patients (50%), while bleeding episodes in 2/12 (16.7%). White blood cell and absolute lymphocyte counts were reduced in 8/12 (66.7%) and 7/12 (58.3%) patients, respectively. Absolute numbers of CD3 Our data suggest that patients affected with JS may display important numeric and maturational alterations in the T-, B-, and NK-cell compartments. These findings suggest that JS patients should be regularly monitored from an immunological point of view.

Identifiants

DOI: 10.1007/s10875-021-01169-2 PMID: 34802108
pubmed: 34802108
doi: 10.1007/s10875-021-01169-2
pii: 10.1007/s10875-021-01169-2
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

365-374

Informations de copyright

© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Références

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Auteurs

Manuela Baronio (M)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

Francesco Saettini (F)

Pediatric Hematology Oncology Unit, Department of Pediatrics, University of Milano Bicocca, MBBM Foundation, Monza, Italy.

Luisa Gazzurelli (L)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

Stefano Rossi (S)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

Antonio Marzollo (A)

Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
"Fondazione Città della Speranza", Institute of Pediatric Research, Padua, Italy.

Silvia Ricci (S)

Department of Health Sciences, Pediatric Immunology Unit, Meyer Children's University Hospital, University of Florence, Florence, Italy.

Daniele Zama (D)

Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Bologna, Italy.

Boaz Palterer (B)

Department of Clinical and Experimental Medicine, Unit of Allergology and Clinical Immunology, University of Florence, Florence, Italy.

Canessa Clementina (C)

Department of Health Sciences, Pediatric Immunology Unit, Meyer Children's University Hospital, University of Florence, Florence, Italy.

Lodi Lorenzo (L)

Department of Health Sciences, Pediatric Immunology Unit, Meyer Children's University Hospital, University of Florence, Florence, Italy.

Marco Chiarini (M)

Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili, Brescia, Italy.

Alessandra Sottini (A)

CREA (AIL Center for Hemato-Oncologic Research), Diagnostic Department, ASST Spedali Civili of Brescia, Brescia, Italy.

Luisa Imberti (L)

CREA (AIL Center for Hemato-Oncologic Research), Diagnostic Department, ASST Spedali Civili of Brescia, Brescia, Italy.

Chiara Gorio (C)

Pediatric Oncohematology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.

Linda Rossini (L)

Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.

Raffaele Badolato (R)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

Alessandro Plebani (A)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

Daniele Moratto (D)

Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili, Brescia, Italy.

Vassilios Lougaris (V)

Pediatrics Clinic and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy. vlougarisbs@yahoo.com.
ORCID: 0000-0003-2303-9533

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Classifications MeSH

questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes B › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytophotométrie › Cytométrie en flux › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Jacobsen › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Cellules tueuses naturelles › Immunological Evaluation of Patients Affected...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hémogramme › Numération des leucocytes › Numération des lymphocytes › Immunological Evaluation of Patients Affected...