title: Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).
abstract: OBJECTIVE
  To investigate the association of polyarthritis and chromosome 22q11.2 deletions.
  
  
  METHODS
  Eighty patients with chromosome 22q11.2 deletion syndrome followed up at The Children's Hospital of Philadelphia were examined for evidence of arthropathy or arthritis. Patients with chromosome 22q11.2 deletion syndrome and polyarthritis underwent laboratory evaluations of immunologic function to determine the relationship of their immunodeficiency to the polyarthritis.
  
  
  RESULTS
  The prevalence of polyarthritis in patients with chromosome 22q11.2 deletion syndrome was markedly increased over the prevalence of polyarticular juvenile rheumatoid arthritis (JRA) in the general population. All 3 patients with polyarthritis had evidence of impaired T cell function. Two of the patients with polyarthritis also had IgA deficiency.
  
  
  CONCLUSIONS
  The chromosome 22q11.2 deletion syndrome represents a primary T cell disorder which can be associated with a JRA-like polyarthritis. All 3 patients with polyarthritis had evidence of more extensive immunoregulatory derangements than those typically seen in patients with chromosome 22q11.2 deletion, and these derangements may have predisposed to the development of polyarthritis.
authors.affiliation: Division of Allergy, Immunology, and Infectious Diseases, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: K E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: C M
authors.initials: CM
authors.lastname: Zmijewski
authors.forename: A S
authors.initials: AS
authors.lastname: Ellabban
authors.forename: L
authors.initials: L
authors.lastname: Reed
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: B H
authors.initials: BH
authors.lastname: Athreya
authors.forename: G
authors.initials: G
authors.lastname: Keenan
mesh_terms: D001168:Arthritis / Q000235:genetics*; D001171:Arthritis, Juvenile / Q000235:genetics*; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence