Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects

Salem Al-Tamemi, Bruce Mazer, David Mitchell, Pedro Albuquerque, Alessandra M V Duncan, Christine McCusker, Nada Jabado

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG. This case outlines the difficulties in making the diagnosis of SCID in a timely manner and illustrates the variation in presentation of the 22q11.2 deletion syndrome. There should be a high index of suspicion for primary immunodeficiency among children with severe infections and, because management may vary, DG anomaly should be considered in the differential diagnosis of T- B+ natural killer+ SCID.

Original languageEnglish
JournalPediatrics
Volume116
Issue number3
DOIs
Publication statusPublished - Sep 2005

    Fingerprint

Keywords

  • Fluorescence in situ hybridization
  • Primary immunodeficiency
  • Stem cell transplant
  • Thymic transplant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Al-Tamemi, S., Mazer, B., Mitchell, D., Albuquerque, P., Duncan, A. M. V., McCusker, C., & Jabado, N. (2005). Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects. Pediatrics, 116(3). https://doi.org/10.1542/peds.2005-0371