Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Feb;42(2):365-374.
doi: 10.1007/s10875-021-01169-2. Epub 2021 Nov 20.

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

Manuela Baronio #  1 , Francesco Saettini #  2 , Luisa Gazzurelli #  1 , Stefano Rossi  1 , Antonio Marzollo  3   4 , Silvia Ricci  5 , Daniele Zama  6 , Boaz Palterer  7 , Canessa Clementina  5 , Lodi Lorenzo  5 , Marco Chiarini  8 , Alessandra Sottini  9 , Luisa Imberti  9 , Chiara Gorio  10 , Linda Rossini  3 , Raffaele Badolato  1 , Alessandro Plebani  1 , Daniele Moratto #  8 , Vassilios Lougaris #  11
Affiliations

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

Manuela Baronio et al. J Clin Immunol. 2022 Feb.

Abstract

Purpose: 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.

Methods: 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.

Results: 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+ and CD4+ T cells were reduced in 8/12 (66.7%) and 7/12 (58.3%), respectively. Of note, recent thymic emigrants (RTE) were reduced in all tested patients (9/9), with T-cell receptor excision circle analysis (TRECs) showing a similar trend in 8/9 patients; naïve CD4+ T cells were low only in 5/11 patients (45.4%). Interestingly, B-cell counts, IgM memory B cells, and IgM serum levels were reduced in 10/12 (83.3%) patients. Natural killer (NK) cell counts were mostly normal but the percentages of CD16+CD56low/- cells were expanded in 7/7 patients tested. The observed immunological alterations did not correlate with patients' age. Finally, responses to proliferative stimuli were normal at presentation for all patients, although they may deteriorate over time.

Conclusions: 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.

Keywords: B lymphocytes; Immunoglobulins; Jacobsen syndrome; T lymphocytes.

PubMed Disclaimer

References

    1. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered. 1973;23:568–85. https://doi.org/10.1159/000152624 . - DOI - PubMed
    1. Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015;169(3):239–50. https://doi.org/10.1002/ajmg.c.31448 . - DOI - PubMed
    1. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004;129A(1):51–61. https://doi.org/10.1002/ajmg.a.30090 . - DOI - PubMed
    1. Penny LA, Dell’Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995;56(3):676–83. - PubMed - PMC
    1. Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, et al. Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. Cold Spring Harb Mol Case Stud. 2019;5(3):1–9. https://doi.org/10.1101/mcs.a004010 . - DOI

Publication types

LinkOut - more resources