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 deficiency in CHARGE association.

Demetrios S Theodoropoulos1

  • 1Department of Allergy, Marshfield Clinic, Marshfield, Wisconsin 54449, USA. theodoropoulos.demetrios@marshfieldclinic.org

Clinical Medicine & Research
|June 3, 2005
PubMed
Summary

CHARGE association, a condition with multiple anomalies, can include immune deficiencies. This study identified varied immune defects in three patients, primarily manifesting as recurrent respiratory infections.

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

Prevalence of antigliadin IgA antibodies in psoriasis vulgaris and response of seropositive patients to a gluten-free diet.

Journal of multidisciplinary healthcare·2018
Same author

Inhalant allergy compounding the chronic vaginitis syndrome: characterization of sensitization patterns, comorbidities and responses to sublingual immunotherapy.

Archives of gynecology and obstetrics·2016
Same author

Eosinophilic esophagitis.

Cleveland Clinic journal of medicine·2015
Same author

Quality of life improvement with sublingual immunotherapy: a prospective study of efficacy.

Journal of allergy·2012
Same author

Emerging concepts of sublingual immunotherapy for allergy.

Drugs of today (Barcelona, Spain : 1998)·2010
Same author

Challenges in hematopoietic stem cell transplantation.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation·2010

Area of Science:

  • Genetics and Immunology
  • Pediatric Medicine

Background:

  • CHARGE association is a rare, sporadic condition characterized by multiple congenital anomalies, including Coloboma, Heart defects, choanal Atresia, Retardation of growth/development, Genitourinary anomalies, Ear anomalies, and deafness.
  • The molecular basis and full spectrum of CHARGE association remain incompletely understood, with potential overlaps with other genetic syndromes like DiGeorge sequence.
  • While not a defining feature, immune system involvement in CHARGE association has been an area of limited investigation.

Observation:

  • This study investigated three patients diagnosed with CHARGE association who presented with recurrent upper and lower respiratory tract infections.
  • Clinical observations revealed distinct immune system abnormalities in each patient, suggesting heterogeneity in immune compromise within the CHARGE association spectrum.

Findings:

  • One patient exhibited impaired T-cell proliferation and a diminished antibody response to polysaccharide antigens.
  • Another patient was diagnosed with T-cell lymphopenia.
  • The third patient presented with a mild IgG2 subclass deficiency.

Implications:

  • The findings suggest that immune deficiency should be considered an occasional, albeit variable, component of CHARGE association.
  • Early identification and management of immune defects, such as prophylactic antibiotics, may be beneficial for patients with CHARGE association experiencing frequent infections.
  • Further research is warranted to elucidate the precise mechanisms and prevalence of immune dysfunction in CHARGE association.

Related Experiment Videos