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Complement Activation in 22q11.2 Deletion Syndrome.

Dina Grinde1, Torstein Øverland2, Kari Lima2,3

  • 1Department of Pediatric Research, Oslo University Hospital, Oslo, Norway. dina.aresvik@rr-research.no.

Journal of Clinical Immunology
|March 11, 2020
PubMed
Summary
This summary is machine-generated.

This study found no complement deficiencies in 22q11.2 deletion syndrome (DiGeorge syndrome). Instead, patients show increased complement activation, particularly linked to psychiatric disorders.

Keywords:
22q11.2 deletion syndrome22q11.2delDiGeorge syndromecomplementprimary immunodeficiencies

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Area of Science:

  • Immunology
  • Genetics
  • Complement System

Background:

  • 22q11.2 deletion syndrome (22q11.2 del), or DiGeorge syndrome, is a common genetic disorder with diverse clinical manifestations.
  • While cardiac, immune, and psychiatric issues are frequent, the role of the complement system remains unexplored.

Purpose of the Study:

  • To investigate the complement system's function and activation in patients with 22q11.2 del.
  • To correlate complement parameters with clinical and immunological features.

Main Methods:

  • Assessed functional capacity of classical, lectin, and alternative complement pathways.
  • Measured complement activation products (C3bc, TCC) in 69 patients and 56 controls.
  • Correlated findings with clinical data, including psychiatric disorders.

Main Results:

  • Patients with 22q11.2 del exhibited normal classical and alternative pathway function and no increased mannose-binding lectin deficiency.
  • Significantly elevated C3bc and slightly increased TCC levels were observed in patients compared to controls.
  • Increased complement activation correlated with the presence of psychiatric disorders.

Conclusions:

  • The study demonstrates no complement deficiencies in 22q11.2 del.
  • Evidence suggests heightened complement activation in these patients.
  • Complement activation is specifically associated with psychiatric manifestations in 22q11.2 del.