Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Immune defects in subjects with dysmorphic disorders.

Sanaa A Mahmoud1, Mary Lowery-Nordberg, Harold Chen

  • 1Section of Allergy/Immunology, Louisiana State University Health Sciences Center, 1501 Kings Highway, Shreveport, LA 71130-3932, USA.

Allergy and Asthma Proceedings
|February 3, 2006
PubMed
Summary

Patients with dysmorphic disorders frequently experience infections due to immune system defects. This study found common B-cell and T-cell deficiencies in these patients, particularly those with chromosomal disorders.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The state of the academic medical center in allergy/immunology: Work Group Report of the AAAAI A/I Division Directors Committee.

The Journal of allergy and clinical immunology·2025
Same author

WAO - ARIA consensus on chronic cough: Executive summary.

The World Allergy Organization journal·2025
Same author

New insights in hidden food allergies.

Journal of food allergy·2024
Same author

Not all marketed skin cleansers' pH is optimal for atopic dermatitis.

Allergy and asthma proceedings·2024
Same author

Where is academic medicine going?: Part 2. Academic career and patient care.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology·2024
Same author

Where is academic medicine going?: Part 1. Medical education and research.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology·2024

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Dysmorphic disorders are often associated with recurrent respiratory infections.
  • Anatomic, neurological, or immune defects may underlie infection susceptibility.

Purpose of the Study:

  • To screen patients with dysmorphic conditions for major hematologic, B-cell, and T-cell defects.
  • To investigate the contribution of immune defects to infection susceptibility in dysmorphic disorders.

Main Methods:

  • Studied 84 subjects with dysmorphic disorders (chromosomal, single gene, unclassified).
  • Evaluated via physical exam, medical history, complete blood count, serum immunoglobulins (IgG, IgA, IgM), and lymphocyte subsets.
  • Identified low laboratory values below the fifth percentile for age.

Related Experiment Videos

Main Results:

  • 54.8% of subjects had low laboratory values, most common in chromosomal disorders (79.3%).
  • Most frequent deficiencies were in CD19 and CD16/56 lymphocyte subpopulations, followed by IgG and IgA.
  • Abnormal values were highest in Down syndrome, Turner syndrome, and chromosome deletions.

Conclusions:

  • Dysmorphic disorders, especially chromosomal types, exhibit a high frequency of B-cell and T-cell defects.
  • These immune defects likely contribute to increased infection susceptibility.
  • Further research is needed to define immunologic defects and explore genetic bases.