title: Immunological features of 22q11 deletion syndrome.
abstract: OBJECTIVE
  22q11 deletion syndrome is the most common genetic abnormality. More patients are surviving cardiac surgery, and many do not have cardiac anomalies. Adult patients are now being described. It is important for paediatricians, and increasingly adult physicians, to be aware of the optimum management of these patients.
  
  
  RESULTS
  Three main immunological patterns are recognized, namely, athymic and incomplete 22q11 deletion syndrome and autoimmunity. Newborn screening for severe combined immunodeficiency detects athymic patients, although diagnosis may be complicated, and instructive cases are described. Incomplete 22q11 deletion syndrome is the most common presentation; new findings predict which patients are likely to experience significant infection. B lymphocyte deficiencies are often overlooked. Data regarding autoimmunity in adult patients is reported, as well as newly reported immunological findings. Finally, management guidelines are now published, and these are highlighted.
  
  
  CONCLUSIONS
  Newborn screening detects patients with athymic 22q11 deletion syndrome, but significant illness may complicate the picture, and dual diagnoses can confound treatment. Treatment options for these patients are becoming clearer. Hypoparathyroidism is associated with more severe infection, and immunoglobulin abnormalities are more common than previously recognized. Adult patients are symptomatic and management guidelines will help general physicians in managing these patients.
authors.affiliation: Institute of Cellular Medicine, Newcastle University, UK.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Gennery
mesh_terms: D058165:22q11 Deletion Syndrome / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D061167:Central Tolerance; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007011:Hypoparathyroidism / Q000276:immunology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D017410:Practice Guidelines as Topic; D013601:T-Lymphocytes / Q000276:immunology; D013950:Thymus Gland / Q000276:immunology / Q000473:pathology / Q000637:transplantation*