ReviewCurrent allergy and asthma reports2018
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
Review in Current allergy and asthma reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 36 citations in OpenAlex.
- Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.Journal of clinical immunology · 2025Article
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.International journal of molecular sciences · 2023Review
- Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?Clinical medicine insights. Pediatrics · 2023Review
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.International journal of medical sciences · 2023Article
- T Cell Response to Influenza Vaccination Remains Intact in Adults with Congenital Heart Disease Who Underwent Early Thymectomy.International journal of cardiology. Congenital heart disease · 2022Article
- Article
- Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features.Frontiers in pediatrics · 2022Article
- The Role of Zinc in the T-Cell Metabolism in Infection Requires Further Investigation - An Opinion.Frontiers in immunology · 2022Article
- Congenital Heart Disease: An Immunological Perspective.Frontiers in cardiovascular medicine · 2021Review
- Impact of Coronavirus Disease 2019 (COVID-19) on Patients With Congenital Heart Disease Across the Lifespan: The Experience of an Academic Congenital Heart Disease Center in New York City.Journal of the American Heart Association · 2020Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThis review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches. RECENT
findingsClinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Additionally, genetic testing utilizing chromosomal microarray demonstrates a small but significant number of 22q11 deletions that are not detectable by standard FISH testing. The recent addition of a TREC assay to newborn screening can identify a subset of infants whose severe immune defects may result from 22q11 deletion. This initial presentation now also places the immunologist in the role of "first responder" with regard to diagnosis and management of these patients. DiGeorge syndrome reflects a clinical phenotype now recognized by its underlying genetic diagnosis, chromosome 22q11.2 deletion syndrome, which is associated with multisystem involvement and variable immune defects among patients. Updated genetic and molecular techniques now allow for earlier identification of immune defects and confirmatory diagnoses, in this disorder with life-long clinical issues.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.