All issues > Volume 43(11); 2000

Original Article

J Korean Pediatr Soc. 2000;43(11):1423-1429. Published online November 15, 2000.

Immunologic Characteristics of CATCH 22 Syndrome

Hye Young HY Ryu¹, Eun Kyung EK Jo², Eun Jung EJ Cheon³, Hong Ryang HR Kil¹, Jae Ho JH Lee¹

¹Department of Pediatrics, College of Medicine, Chungnam National University, Taejon, Korea
²Department of Microbiology, College of Medicine, Chungnam National University, Taejon, Korea
³Department of Pediatrics, Eulji Medical College, Taejon, Korea

Abstract

Purpose
: Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anomaly face syndrome(CTAFS). DGS was originally described as an immunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia. But the frequency & severity of immunodeficiency of other clinical syndromes associated with the chromosome 22q11 deletion has not been investigated. This study was undertaken to investigate the frequency and severity of immunodeficiency, the relationship of the immunodeficiency to clinical phenotypes, and the change of immunologic status with age in CATCH 22 syndromes patients.
Methods
: Sixteen patients with CATCH 22 syndrome with characteristic clinical phenotype and chromosome 22q11 deletion were studied. Humoral and cellular immunities were examined by measuring serum IgG, IgA, IgM level and by T cell subset through flow cytometry and lymphocyte proliferation test by common T cell mitogens respectively.
Results
: 69% of patients with CATCH 22 syndrome were found to have evidence of immunocompromise. The severity of the immunodeficiency did not correlate with any particular phenotypic features nor was it restricted to patients who were categorized as having DiGeorge syndrome. The severity of immunodeficiency tended to be normalized with age.
Conclusion
: The presence of the immunocompromise is common and its severity cannot be predicted based on the clinical phenotype of CATCH 22 syndrome. Therefore, each child with CATCH 22 syndromes regardless of clinical phenotype should be extensively assessed for earlier detection of subclinical immunodeficiency.

Keywords :CATCH 22, Immunodeficiency, T cells, Velocardiofacial syndrome