Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome

J Pediatr. 2021 Nov;238:215-220.e5. doi: 10.1016/j.jpeds.2021.07.020. Epub 2021 Jul 17.


Objectives: To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DiGeorge syndrome.

Study design: Data were collected for 98 patients with DiGeorge syndrome treated at a tertiary medical center. This included general information, laboratory results, and clinical features.

Results: The median age at diagnosis was 2.0 years (range, 0.0-36.5 years). The most common symptoms that led to diagnosis were congenital heart defect, speech delay, palate anomalies, and developmental delay. Common clinical features included recurrent infections (76 patients), congenital heart diseases (61 patients), and otorhinolaryngology disorders (61 patients). Twenty patients had anemia; the incidence was relatively high among patients aged 6-59 months. Thrombocytopenia was present in 20 patients. Recurrent chest infections were significantly higher in patients with T cell and T cell subset deficiencies. Decreased T cell receptor excision circles were more common with increasing age (P < .001). Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13.

Conclusions: Awareness of DiGeorge syndrome's typical and uncommon characteristics is important to improve diagnosis, treatment, surveillance, and follow-up.

Keywords: DiGeorge syndrome; immunodeficiency; newborn screening; recurrent infections; velocardialfacial syndrome.

MeSH terms

  • Abnormalities, Multiple / etiology
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DiGeorge Syndrome / complications
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / immunology
  • DiGeorge Syndrome / physiopathology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Retrospective Studies
  • Young Adult