• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Wednesday, August 6, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home NEWS Science News Health

Uncovering late-onset combined immune deficiency in chromosome 18q deletion syndrome

by
July 11, 2024
in Health
Reading Time: 3 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency

Analysis of two patients with 18q deletion syndrome revealed T-cell abnormalities in addition to B-cell abnormalities

Credit: Department of Child Health and Development, TMDU

Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency

Tokyo, Japan – Chromosome 18q deletion  (18q del) syndromeis a rare genetic condition disorder, affecting approximately 1 in 40,000 to 55,000 individuals, caused by the deletion of genetic material on the long arm of chromosome 18. This genetic anomaly disrupts normal growth and development, and critically, can impair the immune system’s functionality. Patients with 18q del syndrome often exhibit humoral immunodeficiency or a common variable immunodeficiency (CVID)-like phenotype, characterized by low levels of immunoglobulins (antibodies) in the blood, compromising the body’s ability to effectively combat infections.

Now, however, in a study published recently in the Journal of Clinical Immunology, researchers from Tokyo Medical and Dental University (TMDU) and Kagoshima University have identified a previously undocumented manifestation among patients with 18q del syndrome: late-onset combined immunodeficiency (LOCID), affecting both B and T cells. This novel finding underscores the critical importance of routinely assessing the functionality of both B and T cells in individuals with 18q del syndrome.

Elaborating further on this novel finding, Professor Kanegane says, “In this study, we came across two patients with chromosome 18q del syndrome presenting with LOCID, which, to the best of our knowledge, has not yet been reported in patients with the syndrome.” 

Patient 1 was a 29-year-old man diagnosed with 18q del syndrome. Despite initially having few infections, he developed Pneumocystis pneumonia (PCP). Array-based comparative genomic hybridization (CGH) analysis showed a deletion in the 18q21.32-q22.3 chromosome region. 

Patient 2 was a 48-year-old woman who had not been previously diagnosed with 18q del syndrome. However, she was diagnosed with granulomatous lymphadenitis, and a biopsy of her lymph nodes revealed a loss of 18q21.33-qter.

Both patients exhibited hypogammaglobulinemia, characterized by abnormally low levels of immunoglobulins (IgG, IgA, IgM, and IgE). Patient 1’s serum immunoglobulin levels were significantly below normal ranges. He reported IgG of 188 mg/dL (normal: 870–1,700 mg/dL), IgA of 105 mg/dL (normal: 110–410 mg/dL), IgM of 26 mg/dL (normal: 33–190 mg/dL), and IgE of <5 IU/mL (normal: 232 IU/mL). His CD4+ T cells had a decreased percentage of naïve T cells, accounting for only 3.58% of the total CD3+CD4+ cell population. Moreover, his T-cell receptor excision circles (TREC) levels and Ig κ-deleting recombination excision circle (KREC) levels were extremely low at 25.27 copies/105 cells (normal: > 565 copies/105 cells) and 93.36 copies/105 cells (normal: ≥ 456 copies/105 cells) respectively, indicating poor T-cell production.

Similar conditions were noted for patient 2, who reported IgG of 8 mg/dL, IgA of 9 mg/dL, IgM of 131 mg/dL, and IgE of 0.3 IU/mL. Her CD4+ T cells and naïve CD4+ T cells were depleted, with naïve T cells accounting for only 6% of the CD3+CD4+ cell population. Her TREC levels were 0 copies/105 cells, and her KREC levels were 11.4 copies/105 cells. 

Importantly, CD4+ and CD8+ T cells failed to divide in response to phytohemagglutinin (PHA) stimulation, indicating severe functional impairment of T cells in both the patients.

Based on their immune profiles and clinical history, both of them were diagnosed with LOCID, a condition where both humoral (antibody-mediated) and cell-mediated immune responses were impaired, making them highly susceptible to infections.

This novel finding is significant, as Dr. Tomomasa, the co-authored of this study, states, “While cases involving deletion of the same region as those of the two patients presented in this study have been reported earlier, patients with 18q del syndrome developing LOCID have never been reported. We speculate that these patients simply have not yet developed LOCID or that they might not have been adequately assessed for it.”

On the basis of these results, the researchers recommend annual testing for both cellular and humoral immunity in patients with 18q del syndrome. This proactive approach can allow for the early detection of combined immune deficiencies, facilitating timely interventions and personalized treatment strategies. Ultimately, such regular monitoring can significantly improve clinical outcomes and enhance the quality of life for individuals diagnosed with 18q del syndrome.

###

The article, “18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency,” was published in the Journal of Clinical Immunology at DOI: 10.1007/s10875-024-01751-4 

 



Journal

Journal of Clinical Immunology

DOI

10.1007/s10875-024-01751-4

Article Title

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Share12Tweet8Share2ShareShareShare2

Related Posts

IRX3 Drives SUMOylation Switch in Fat Cell Precursors

IRX3 Drives SUMOylation Switch in Fat Cell Precursors

August 6, 2025
blank

Women’s Childhood Trauma Linked to Mental Health Risks

August 6, 2025

Precision Neonatology Revolutionizes Retinopathy of Prematurity Care

August 6, 2025

Hidden Childhood Adversities Shape Adult Substance and Mental Health

August 6, 2025

POPULAR NEWS

  • blank

    Neuropsychiatric Risks Linked to COVID-19 Revealed

    74 shares
    Share 30 Tweet 19
  • Overlooked Dangers: Debunking Common Myths About Skin Cancer Risk in the U.S.

    61 shares
    Share 24 Tweet 15
  • Predicting Colorectal Cancer Using Lifestyle Factors

    46 shares
    Share 18 Tweet 12
  • Dr. Miriam Merad Honored with French Knighthood for Groundbreaking Contributions to Science and Medicine

    47 shares
    Share 19 Tweet 12

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

IRX3 Drives SUMOylation Switch in Fat Cell Precursors

Women’s Childhood Trauma Linked to Mental Health Risks

C-Phycocyanin Impacts Gli1, Bcl-2 in Gastric Cancer

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.