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The DiGeorge anomaly.

R Hong1

  • 1Department of Pediatrics, University of Wisconsin Center for Health Sciences, Madison 53792.

Immunodeficiency Reviews
|January 1, 1991
PubMed
Summary
This summary is machine-generated.

DiGeorge anomaly (DGA) is a developmental defect affecting pharyngeal pouch derivatives, often causing characteristic facial and heart defects. Complete DGA requires immune system reconstitution, treatable with thymus or bone marrow transplants.

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Area of Science:

  • Developmental biology
  • Immunology
  • Genetics

Background:

  • DiGeorge anomaly (DGA) results from developmental defects in pharyngeal pouch derivatives, often due to insufficient neural crest contributions.
  • Associated conditions include teratogen exposure, cytogenetic abnormalities, and Mendelian disorders.
  • Characteristic features include facial dysmorphia and cardiovascular anomalies.

Purpose of the Study:

  • To describe the spectrum of DiGeorge anomaly.
  • To differentiate between complete and incomplete forms of DGA.
  • To outline diagnostic and therapeutic approaches for thymic defects.

Main Methods:

  • Review of clinical manifestations and genetic underpinnings of DGA.
  • Diagnostic criteria for identifying patients with thymic defects.

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  • Evaluation of treatment options for immunodeficiency.

    • Main Results:

    • Two rare conotruncal anomalies (interrupted aortic arch type B, truncus arteriosus) comprise over half of cardiac lesions in DGA.
    • Thymic descent failure is common, but significant immunodeficiency occurs in only 25% of cases.
    • Complete DGA is defined by the need for immune system reconstitution.

    Conclusions:

    • Complete DGA necessitates immune reconstitution, identifiable via T cell enumeration and proliferation assays.
    • Therapeutic options for thymic defects include thymus transplantation and HLA-matched sibling bone marrow transplantation.